BAI JERBAI WADIA HOSPITAL FOR

CHILDREN

PEDIATRIC CLINICS

FOR POST GRADUATES

PREFACE

This book is a compilation of the discussions carried out at the course for post-graduates

on ” Clinical Practical Pediatrics” at the Bai Jerbai Wadia Hospital for Children, Mumbai. It

has been prepared by the teaching faculty of the course and will be a ready-reckoner for

the exam-going participants. This manual covers the most commonly asked cases in

Pediatric Practical examinations in our country and we hope that it will help the students

in their practical examinations. An appropriately taken history, properly elicited clinical

signs, logical diagnosis with the differential diagnosis and sound management principles

definitely give the examiner the feeling that the candidate is fit to be a consultant of

tomorrow.

Wishing you all the very best for your forthcoming examinations.

Dr.N.C.Joshi

Dr.S.S.Prabhu

Program Directors.

1

FOREWARD

I am very happy to say that the hospital has taken an initiative to organize this CME for

the postgraduate students. The hospital is completing 75 years of its existence and has

done marvelous work in providing excellent sevices to the children belonging to the poor

society of Mumbai and the country. The hospital gets cases referred from all over the

country and I am proud to say that the referrals has stood the confidence imposed on the

hospital and its faculty. We do get even the rarest of the rare cases which get diagnosed

and treated.

I am sure all of you will be immensely benefited by this programme.

Wish you all the best in your examination and career.

Brig (Retd.) . Dr. K.B.N.S.Dod

Chief Senior Executive

Wadia Group of Hospitals

2

TIPS FOR CANDIDATES

Ten Commandments

1. Dress appropriately as a future consultant. Always wear a neatly washed and

ironed apron. Sit straight and mind your body language, especially your speech

and hand movements i.e. practice speaking before appearing for exams.

2. Always be able to summarize, encapsulate the essence and emphasize the major

issues without losing too much detail. Hence practice case presentations. Mental

rehearsal of the case helps in fluent presentation and makes you appear

confident.

3. Wish the examiner/s when you enter and thank them when you leave.

4. Present the case boldly, confidently and clearly with an attitude of a future

consultant and not a resident (poor speech affects your viva performance).

5. Maintain eye contact with the examiner/s when answering questions

6. When asked to demonstrate clinical signs, give a brief description of what you

want to show the examiners. Always be brief and factual and avoid jargon, slang,

abbreviations and meaning-less expressions.

7. Never antagonize or argue with the examiners .You will always lose. Remember

that the examiner is the judge, jury and the final word.

8. Be clear in what you want to tell. Avoid statement like slightly pale, not looking

good, maybe edematous…..

9. Always have your own equipment set which includes- pens, paper, growth charts,

stethoscope, fundoscope, otoscope, measuring tape, cotton, knee hammer, tuning

fork, pins, torch with batteries, Colorful toys, disposable spatulas, hand held eye

charts (if available).

10.Always appear for the examination with a positive attitude. It helps.

3

List of contributors

Anaita Hegde.

Archana.Limaye

Ira Shah.

K.N. Shah.

Kumud.P.Mehta.

Meena. P.Desai.

M. P. Colaco.

N.C. Joshi.

Parmananad.A.

Priti Mehta.

Rajesh Joshi.

Ruchira Pahare.

Shakuntala Prabhu.

Shilpa Kamat.

Sudha Rao.

Sumitra Venkatesh.

Uma.S.Ali.

Vrajesh Udani.

4

INDEX

1. Tuberculous Meningitis

2. Cerebral Palsy

3. Acute infantile hemiplegia

4. Ataxia

5. Duchenne’s muscular dystrophy

6. Floppy Infant

7. Chorea

8. Hydrocephalus

9. Meningomyelocoele

10. Paraplegia

11. Guillian Barre Syndrome

12. Neuroregression

13. Congenital Heart Diseases

14. Rheumatic Heart Disease

15. PEM

16. Rickets

17. Short stature

18. Ambigious Genetalia

19. Bronchiectasis

20. Hepatosplenomegaly with anaemia

21. Hepatosplenomegaly with jaundice with PHT

22. Cholestatic syndrome of infancy

23. Rheumatoid Arthritis

24. Nephrotic Syndrome

25. Newborn

6

9

12

17

20

22

25

28

31

34

39

42

48

56

65

70

73

78

81

84

89

91

94

97

99

5

TUBERCULOUS MENINGITIS

Name Age Sex Address Consanguinity Handedness

Chief Complains

Fever - mild, moderate, low grade with evening rise.

Convulsions :- focal / generalised seizures

(usually not along with onset of fever ,late in the course of fever)

Altered sensorium :- onset - sudden / insiduous.

Lethargy

Vomiting

Focal neurological deficit -

Hemiplegia / monoplegia / cranial neuropathies.

Origin/Duration/Progress

Chief complains in details.

Narrative history :-

H/o. Abnormality of higher functions - Lethargy , altered sensorium

Convulsions

Cranial nerve palsies - deviation of angle of mouth, drooling of saliva,

squinting, diplopia.

Focal neurological deficits ( hemiplegia /monoplegia).

Abnormal / involuntary movements tremors / chorea / hemiballismus

H/s/o increased intracranial pressure i.e. vomiting / headache / blurring of

vision.

H/s/o meningeal inflammation i.e.neck pain, photophobia, restriction of neck

movement.

H/o bowel, bladder complaints .

History for etiology :-

H/o. head injury ( may precipitate TBM)

H/o. otorrhoea - (pyogenic meningitis )

H/o. any treatment taken outside in f/o intramuscular / intravenous injections (Partially

treated pyogenic meningitis)

H/o. vaccines / drugs / sera ( Acute disseminated encephalomyelitis)

H/o. rash, fever, altered sensorium, convulsions ( Viral encephalitis)

H/o. fever with rash (measles)

H/o. whooping cough.

H/o. contact with tuberculosis.

H/o. diarrhoea, fever, chronic cough (HIV)

H/o. immunosuppressive drug intake.

Immunisation history – BCG , Measles.

History for complications :-

H/o bed sores, contractures, skin changes, bladder, bowel complications. (constipation/

urinary infection )

6

H/o. seizures.

H/o. decorticate / decerebrate posturing.

Drug history, procedure history.

H/o. any surgery, VP shunt / reservoir

Family history - of koch’s

Nutritional history - malnutrition may precipitate Tuberculous meningitis.

Birth History :-

Developmental history.

Socio economic history - Overcrowding , sanitation.

Examination :-

General examination :-

1] Decubitus

2] Vitals - Temperature ,Pulse , Respiration , Blood pressure.

3] Anthropometry with interpretation.

4] Pallor, cyanosis, clubbing, icterus, lymphadenopathy, edema feet,

5] Stigmata of tubercolosis – Phlycten ,Scrofuloderma ,Sinuses, erythema nodosum

6] Anterior fontanelle

7] Size & heaviness of head

8] crack pot sign

9] BCG scar - present / absent.

10] Neurocutaneous markers

11] Dysmorphic features

12] Presence or absence of IV line, Ryles tube

13] Skull, spine, scars

14] Skin - bedsores

15] Contractures

16] Signs of malnutrition & vitamin deficiency

17] Presence / absence & patency of VP shunt

CNS :-

Higher functions - state of conciousness

Gag reflex

Eye movements

Pupillary reflexes

Corneal / conjunctival reflexes

Motor system examination

Sensory system

Cerebellar signs

Meningeal signs

Hydrocephalus : Heavy head, crackpot or sutural seperation - Signs of increased

intracranial pressure.

Involuntary movements

Fundus - papilloedema / choroid tubercules / optic atrophy.

7

Diagnosis :-

---years old M/F child with chronic meningoencephalitis with / without

hemi / monoparesis with / without cranial nerve palsy with / without involuntary

movement with / without signs of increased intracranial pressure.

Probable etiology being TBM.

Investigations :-

Specific for diagnosis of tuberculous meningitis

1] CSF examination (after fundus examination}

CSF for PCR , Tubercular antigen & ADA levels , Tubercular stearic acid

and Bromide partition test.

2] Neuroimaging - CT scan with contrast (in c/o increased intracranial pressure CT

should be done prior to lumbar puncture & LP should be guarded /LP under cover of

mannitol).

3] MT

4] X ray chest

5] Gastric lavage for Acid fast bacillus.

6] CBC - with lymphocytosis & ESR

7] HIV

8] Liver function tests ( prior to treatment & for treatment monitoring}

9] Renal function test

10] Eletrolyte - baseline as well as monitoring to rule out SIADH

Commonly asked questions :

1] Discussion of differential diagnosis

2] Stages of coma

3] Stages of TBM & prognosis in each stage.

4] Signs of meningeal irritation.

5] Signs of increased intracranial pressure

6] Types of herniation

7] Management of TBM - supportive + definitive

8] Types of shunt & complications of shunt

9] Complication of TBM

10] Pathology in TBM & lesion localization

11] CT correlates in TBM

12] Precipitating factors in TBM

13] Poor prognostic factors in TBM

14] Role of steroids

15] Newer modalities of diagnosis of TBM

8

CEREBRAL PALSY

Name Age Sex Handedness Consanguinity

Chief complaints:

- delayed milestones,

- convulsions.

O.D.P.

- Convulsions - Generalised tonic clonic / myoclonic / focal

Infantile spasms.

- Detailed birth history.

Antenatal period - maternal drugs, Xrays, illnesses-like rash , PIH ,DM , fall

- Milestone History Gross motor , fine adaptive ,social , language (with rough

DQ to each category).

- Hand preference.

- Scissoring (difficulty in putting diaper).

- Floppiness of body .

- Power in limbs.

- Impairment of vision, hearing.

- Squinting, CN palsies.

- Swallowing difficulties.

- Involuntary movement

- Dystonia, tremors, chorea, dyskinesia.

- limb dyskinesia , oromotor dyskinesia , jark in the box tongue.

- Mannerisms, stereotypies.

- Bladder, bowel involvement.

For etiology :-

Birth details :Antenatal Infections, twins , trauma,drugs

Neonatal sepsis, kernicterus

Meconium, asphyxia, hypoglycemia.,NICU stay

Post meningitis / trauma.

Family history :-

Any neurological illness / convulsion in any sibling / family

any sibling deaths, any CPs in family.

H/O Complication :-

Convulsions

Feeding difficulty /constipation

recurrent LRTI

contractures, bed sores behavioral problems, injuries, falls.

9

H/O Treatment :-

Immunisation :- ?? DPT

Diet History

Examination :

- Vitals

- Anthropometry with interpretation

- General- pallor

Cataract, strabismus,

Skull - Overriding of sutures.

Shape of skull

Anterior Fontanelle

Dysmorphism

Neurocutaneous markers

Eyes - cataract

Dentition

Evidence of. malnutrition , bed sores, contractures - static/ dynamic

CNS :-

Higher Functions

Cranial nerves

Tone power reflexes

Exaggeration of reflexes:- afferent spread. (Knee Jerk on tapping thigh)

efferent spill over (crossed adductor on knee jerk)

Development :- supine, prone, pull to sit,

Ventral suspension ,axillary suspension

Neonatal reflexes

Hearing

Vision

Fundus examination – choreoretinitis / optic atrophy / retinitis pigmentosa

Other systems (organomegaly/ murmurs)

Diagnosis -------------year old M/F with static encephalopathy with motor deficit (spastic

/ hypotonic / mono-di-tri-tetra-para plegia / double hemiplegia)

with functional grade-----------

with convulsion

with squint, hearing deficit

with IQ / DQ (mental / motor age)

with PEM / LRTI/ contractures , with probable etiology ----------

Commonly asked questions :-

1] Early markers of CP10

2] Functional grades of CP

3] Neonatal reflexes

4] Audiometry

5] MRI correlates in CP

6] Development - gross motor, fine motor, speech ,social

7] Drugs & Surgical procedure to reduce spasticity

8] Associated problems :-

- MR - 50-75% Sp. Quadriplegic

- Seizures - 25-30%

Spastic Quadriplegic C.P. (90%) Spastic Hemiplegic C.P. (30%)

Least in dystonic C.P.

- Hearing & Speech problems-15-20%. in dystonic and spastic C.P.

- Ocular problem 50-70%

- Behaviour problem 30-50%

11

ACUTE INFANTILE HEMIPLEGIA

Name Age Sex Address Consanguinity Handedness

CHIEF COMPLAINTS: paucity of movements of right/left side of the body.

convulsions

ODP-Congenital / acquired

Onset-Catastrophic/acute/sub acute/chronic/static/episodic

Progressive/ static/ improving

Involving the upper limb preferentially/equally

Detailed H/O CNS involvement –

H/O weakness, proximal/distal

H/O sensory involvement

H/O Cranial nerve involvement

H/O involuntary movements

H/O bladder / Bowel involvement

H/O speech abnormality

H/O gait abnormality

H/O Complications

Bed sores/shortening of limbs/contractures /trophic ulcers

ETIOLOGICAL HISTORY

H/o Trauma-Head injury/Oral cavity injury

- Fracture( Fat embolism)

Hematological causes

H/O pallor

H/O pain in hand/foot/ abdomen (sickle cell crisis)

H/O bleeding from any site/petechae/purpura/ hematemesis / malena

H/O Fever/ bone pain /weight loss (leukemia)

H/O diarrhea/ vomiting oliguria/ hematuria (HUS) or, h/s/o nephrotic

syndrome

Cardiac causes

H/o fever with chills/ petechiae/hematuria (Infective Endocarditis)

H/O cyanosis /cyanotic spell (Cyanotic heart disease) (abscess/

Thrombosis )

H/O fever with joint pain/sore throat (Rheumatic)

H/O Cardiac surgery (Prosthetic heart valve)

H/s/o Hypertension-Headache/ Vomiting/Visual Disturbance

Collagen Vascular Disease

H/o fever with rash with joint pain (SLE)

H/O Claudication (Takayasus)

12

Infectious Causes

H/O sore throat (Pharyngeal abscess)

H/O Koch’s/Koch’s contact

H/O Viral exanthems (HSV Encephalitis/ mumps/chicken pox)

H/O Otorrhoea (brain abscess)

H/O Vaccination/ sera (Demyelination)

Dehydration- H/O Acute Gastroenteritis followed by seizures/ coma (sagittal sinus

thrombosis )

H/O recurrent attacks of TIA /hemi paresis (Migraine/Moya-Moya/alternating hemiplegia)

H/O post seizure transient paralysis (Todd’s paralysis)

FAMILY HISTORY

H/O similar attacks in the family (Sickle cell/ homocystinurea/Hyperlipidaemia)

BIRTH HISTORY

Preterm-Subependymal Hemorrhage-Intraventricular hemorrhage

Full-term- Breech/ Traumatic delivery/Birth Asphyxia

H/O Umbilical sepsis / Catheterization (Embolism)

H/o Rash/ fever/ petechae/jaundice (IU infection)

EXAMINATION:

General Examination-Routine examination plus look for dysmorphic features

Carotid pulses should be palpated as well as auscultated(Moya Moya,Takayasu)

Anterior Fontanelle

Head Circumference

US/LS & Length (homocystinurea)

Pallor/Cyanosis/Clubbing

Xanthomas

Petechiae/Purpura/ Joint bleed/ Rash

Eyes-Ectopia lentis

Neurocutaneous Stigmata

Skull-Trauma/Crack pot/Bruit over the skull.

CNS

Higher Functions- Speech (dysphasia seen in involvement of dominant hemisphere)

Intellectual impairment (Meningitis, Encephalitis, Homocystinurea)

Gait (older child)/Gross motor assessment (infant)

Cranial nerve examination (3,4,6 ,7th & gag reflex)

Motor examination -Tone/Power/Reflexes

Abdominal Reflexes & Plantars

Visual fields for field defects& partial visual neglect (A field defect

infers a lesion at or above the internal capsule)

Higher Centers-Test for dysphasia/ Agraphia/ astereognosis/ two point discrimination,

tactile localisation (these occur when the dominant side is involved)

CVS Examination

SPINE

13

Table 1. Differential Diagnosis of Acute Focal Neurological Deficit

Focal cerebral ischemia

Intracranial hemorrhage

Cerebral abscess

Encephalitis (herpes simplex virus)

Brain tumor

Alternating hemiplegia of infancy

Multiple sclerosis

Malingering/conversion disorder

Epilepsy: post-ictal Todd's paralysis or a focal inhibitory seizure

Complicated migraine

Table 2. Diagnostic Evaluation in a Child with Cerebrovascular Disease

FIRST LINE:

Performed within

first 48 hours of

admission

SECOND LINE: Performed within first

week

as indicated

THIRD LINE: Performed

electively as indicated

CT scan of brain

MRI of brain

Complete blood

count

PT/PTT

Electrolytes, Ca, Mg,

Phosphorus,

glucose

Liver function test

Chest x-ray ,MT

ESR

ANA

Urinalysis

BUN, creatinine

Urine drug screen

12-lead EKG

Echocardiogram

Transcranial and/or carotid dopplers

MR angiogram

EEG

Hypercoaguable evaluation

Antithrombin III

Protein C (activity and antigen)

Factor V (leiden) mutation

Antiphospholipid antibody

Anticardiolipin

Lupus-anticoagulant - RA factor

Serum amino acids

Urine for organic acids

Blood culture

Hemoglobin electrophoresis

Complement profile

VDRL

Lactate /pyruvate

Ammonia

CSF: cell count, protein, glucose,

lactate

Lipid profile

HIV

Lyme titers

Mycoplasma titers

Cardiac MRI

Echocardiogram

(transesophageal)

Muscle Biopsy

DNA testing for MELAS

Cerebral angiogram

(transfemoral)

Leptomeningeal biopsy

Serum homocystine after

methionine load

14

LOCALIZATION OF THE LESION IN CASE OF ACUTE INFANTILE HEMIPLEGIA

A) If the cranial nerve palsy is on the same side as that of hemiplegia then the lesion

is above the level of brain stem-Ipsilateral hemiplegia

B) If the cranial nerve palsy is on the side opposite to that of hemiplegia then the

lesion is at or below the brain stem.-Contralateral hemiplegia

IPSILATERAL HEMIPLEGIA

The lesion is either in the cortex , internal capsule or sub cortical region

A) Cortical lesion-

Hemi paresis-Mild involvement & not dense hemiplegia

Differential involvement (Upper limbs more than lower or lower limbs more

than upper)

Altered sensorium may be present

Convulsions may be present

Cortical sensory loss may be present

Astereognosis

Aphasia (if the dominant cortex is affected0

Involvement of the frontal lobe

Altered behavior/personality

Upper limb affected more than lower limb

Motor aphasia

Convulsions

Bladder/ bowel involvement

Persistent neonatal reflexes on the opposite side

Involvement of the parietal lobe

Cortical sensory loss

Astereognosis

Involvement of the Temporal lobe

Temporal lobe epilepsy

Sensory aphasia

Memory loss

Involvement of occipital lobe

Homonymous hemianopia

B) Internal capsule lesion

Dense Hemiplegia

Hemianaesthesia

Homonymous hemianopia

Dysarthria

C) Subcortical lesion(Corona Radiata)

Same as cortical lesion but features such as convulsions & loss of cortical

sensation are absent15

CONTRALATERAL HEMIPLEGIA- Lesion at or below the level of brain stem

A) Lesion in Midbrain

WEBER SYNDROME- 3rd nerve palsy plus crossed Hemiplegia

BENEDICTS SYNDROME-3rd nerve palsy + crossed hemiplegia

+Red nucleus affection (Tremor, rigidity, ataxia on the opposite side)

BLesion in Pons

MILLARD GUBLER SYNDROME-7th nerve palsy +Crossed hemiplegia

FOVILLE SYNDROME-6th nerve palsy + 7th nerve palsy + contra lateral

Hemiplegia

B) Lesion in Medulla

JACKSON SYNDROME-12th nerve palsy + crossed hemiplegia.

16

ATAXIA

Name Age Sex Handedness Consanguinity

Chief Complaints

Swaying gait

Inability to walk

Hand movements, Involuntary movements (tremors)

Unsteadiness in reaching out for objects

Abnormal eye movements (opsoclonus / nystagmus)

Speech problems - dysarthria

ODP OF CHIEF COMPLAINTS

H/O CNS SYMPTOMATOLOGY

Higher function impairment ( speech , memory, emotional lability, scholastic

backwardness)

Regression in milestones

Cranial nerve palsies - eye / face deviation.

Motor deficits

Sensory—difficulty in vision/ feeling ground/ bladder/ bowel complaints

Headache, vomiting, convulsions, unconsciousness, altered sensorium (increased

ICT)

Gait abnormalities – High steppage gait / walking in cloud.

ETIOLOGICAL HISTORY

h/o fever with exanthem( cerebellitis---chicken pox, enteroviruses, coxsackie,influenza)

h/o drugs(piperazine citrate, anticonvulsants,streptomycin)

h/o early morning headache, vomiting, / behavioural changes/ convulsions/

unconsciousness/ altered sensorium(tumor)

h/o trauma

h/o otorrhoea/ tinnitus(vestibulitis)

h/o tingling numbness/paraesthesia/anaesthesia(peripheral neuropathy)

h/o koch’s contact (tuberculoma)

h/o similar complaints in family(hereditary)

h/o mental retardation / regression of milestones( sphingolipidoses/ Marinesco Sjogren

syndrome)

h/o birth asphyxia (ataxic cerebral palsy)

h/o diarrhea/ fat malabsorption (abetalipoproteinemia, vitamin E deficiency)

h/o visual impairment (Refsum’s)

h/s/o liver disease (Wilson’s)

h/o repeated episodes(epilepsy/ Basilar artery migraine)

h/o telengectasia(ataxia telengectasia)

h/o extrapyramidal abnormalities, breathing abnormalities , ptosis (mitochondrial

17

abnormalities)

h/o constipation /lethargy/ MR(hypothyroidism)

h/o photosensitivity reactions/abdominal pain/psychosis/ urine colour change on

standing (porphyrias)

h/o increasing head circumference (hyrocephalus)

BIRTH HISTORY , DIETARY HISTORY , DEVELOPMENTAL HISTORY

IMMUNIZATION HISTORY & SOCIOECONOMIC HISTORY

ON EXAMINATION

GENERAL

Anthropometry with interpretation

Neurocutaneous markers- telangiectasia, hemangiomas Von Hippel Landau

Skeletal-pes cavus, scoliosis (Fredrich’s ataxia)

Telengectasia

CNS EXAMINATION

Higher Functions – Speech – stacatto/ hot potato/ dysarthria

Cranial nerves

Motor examination - Tone Power Reflexes (pendular , absent (Miller Fischer variant) ,

brisk)

Sensory system

Nystagmus / opsoclonus

Cerebellar signs

Upper limbs-Tone, Past pointing, Rebound test of Gordon holmes,Intention tremor,

Postural holding test.

Lower limbs-Gait, Tandem walking, Rhomberg’s test, Pendular knee jerk, Knee heel test,

Toe to finger test.

Dysdiadokinesia

FUNDUS EXAMINATION-Retinitis pigmentosa, Papillodema, optic atrophy

OTHER SYSTEM EXAMINATION

Hepatosplenomegaly-Wilsons

Cardiac-Cardiomyopathy

DIAGNOSIS------------ …. Yr old R/L handed M/F child with acute/chronic/ progressive/

nonprogressive/recovering/ bilateral/ R/L sided truncal/ axial ataxia with/ without anyother

CNS deficits (motor/ sensory/ with/ without raised ICT) with/ without malnutrition/ trophic

changes probable etiology being -----

18

INVESTIGATIONS

Diagnosis is mainly clinical

Routine investigations +

Imaging studies, MRI ( better visualization of posterior fossa and the cerebellum)

Vitamin E levels

Nerve conduction

All investigations to rule out Neuroblastoma should be carried out (urinary VMA level,

MIBG scan , CT chest , abdomen etc.)

CAUSES OF ATAXIA

Acute

Idiopathic-acute cerebellar

ataxia

Metabolic---hypoglycemia,

hyponatremia,

hyperammonemia

Infection-bacterial and viral

meningitis, brain stem

encephalitis

Toxins

Hydrocephalus

Cerebellar lesion-SOL,

tumor, infarct

Neuroblastoma

Polyradiculopathy—guillan

barre, tick paralysis

Labyrinthitis

Brain stem SOL

Episodic

Epilepsy---postictal

Toxins

Metabolic

Basilar artery migraine

Chronic

Fixed deficit------CP,

Malformations

Degenerative----

---Friedrichs ataxia,

Charcot marie tooth,

Levy roussy

Inherited------Wilsons,

ataxia telengectasia,

sphingolipidosis.

Acquired diseases----

hypothyroidism,

neoplasia, drugs

19

DUCHENNE MUSCULAR DYSTROPHY

Name Age Sex Handedness Consanguinity

Chief Complaints - Difficulty in getting up from squatting position,

climbing stair.

Frequent falls, tripping while walking.

Toe walking.

Abnormal gait - waddling gait lordotic posture.

Swelling in calf region.

Onset, duration, progression of weakness.

Onset early - 2-4 years.

Progressive weakness - Symmetrical proximal muscle weakness.

Development of contractures / kypho scoliosis .

Associated complaints.

- Upper limb weakness.

- Pain.

For etiology :-

- H/O. similar complaints. or complication in sib or family. (maternal uncle or

maternal aunt’s children.)

- H/O. constipation, lethargy, neck swelling, delayed milestones, (R/o.

hypothyroidism).

- H/O. drug ingestion (anabolic steroids).

- H/O. rash ,photosensitivity, (polymyositis)

- H/O. cramps, exercise intolerance (Mc ardle)

History for complications :-

H/o. repeated lower respiratory infections/ feeding difficulties, seizures, contractures,

deformities, cardiac involvement.

Family history of :-

- similar complaints. in sibs.

- Death in sibs

- Maternal aunt’s children.

- Mother c/o. weakness, calf pain, calf hypertrophy.

Birth history :-

Developmental history- H/o milestone (motor milestones may be delayed).

20

Examination :-

Gower’s sign.

Waddling gait.

Toe walking.

Supine position to sitting position.

Detail muscle charting.

Note of hypertrophied muscles - Gastrocnemius , Deltoid ,Brachioradialis, soleus

Tongue.

DTR 1+ to absent

Ankle jerk present till late.

Diagnosis :-

Gradual onset slowly progressive (Insiduous)

Weakness more proximal than distal with calf hypertrophy with onset at ------year with

family history of most probably DMD.

DMD in Girls

Turner/ mosaic

Lyonisation.

Manifest carrier

Sarcoglyconaphy.

Investigations

1] CPK

SGOT, aldolase, LDH

2] EMG - low amplitude, polyphasic motor unit action potential.

3] Muscle biopsy with Dystrophin staining.

4] Genetic analysis

21

FLOPPY INFANT

Name Age sex Consanguinity Community Residence

Chief Complaints

Weakness of all 4 limbs and limpness noticed since birth.

Delayed motor and/ or mental milestones.

Abnormal posturing / contractures/ arthrogyphosis

ANTENATAL HISTORY- gravida/ para, registered ?

H/o decreased fetal movements, fever with rash, irradiation, drug exposure (lithium/

phenytoin/ carbamazepine). , polyhydramnios / prolonged labour / LSCS

PERINATAL HISTORY- breech presentation, h/o birth asphyxia, h/o limpness, feeding

difficulties, breathlessness, convulsions in neonatal period., neonatal hyperbilirubinemia

ELABORATION OF C/C.

H/O unilateral/ bilateral weakness of limbs, symmetrical or asymmetrical, sudden

onset/insidious,starting from lower limb and progressing upwards or vice versa. .

Head holding achieved/ partial.

H/O frog like posture

H/O weak cry, h/o feeding difficulties

H/O repeated cough/ cold/fever/ breathlessness

H/O facial asymmetry, pooling of secretions,nasal regurgitation/nasal

twang,dysphagia(involvement of bulbar muscles)

H/O sensory disturbances.

H/O wasting of muscles, H/O fasciculations / fibrillations.

H/O bladder/ bowel disturbances

H/O exaggerated startle (Taysach’s)

ETIOLOGY

H/O Icterus, phototherapy, exchange transfusion (kernicterus)

H/O constipation, prolonged neonatal jaundice (if MR, coarse facies for hypothyroidism)

H/O cyanosis/ altered sensorium(respiratory muscle involvement)

H/O mental development(hypotonic CP)

H/O viral infection/ascending weakness(GBS)

H/O recent vaccination /ring/ pulse polio

H/O flushing/sweating/ palpitation/ postural hypotension/ arrhythmias (dysautonomia)

H/O maternal myasthenia like illness

H/O diurnal variation (mysthenia gravis)

H/O lump in abdomen,early morning hypoglycaemic convulsions with

breathlessness(GSD – Pompe’s)

22

H/O prelacteal feeds like honey f/b bulbar weakness (botulism)

H/O nonprogressive proximal muscle weakness-----congenital myopathies

H/O involuntary movements------congenital cerebellar ataxia

H/O obesity - Prader Willi

H/O cataract/ MR- Lowes

FAMILY HISTORY- h/o deaths in infancy in sibling

MILESTONES - motor +mental

DIET & IMMUNIZATION- last vaccine given (for GBS/ polio)

EXAMINATION

Decubitus- pithed frog position.

HR----/RR------/ regular, abdominothoracic, no e/o resp. distress/BP--------

ANTHROPOMETRY with interpretation

Obesity,dysmorphic facies (Prader- Willi)

Downy facies – Trisomy 21/ Zellweger’s syndrome

Doll like faces – GSD (Pompe)

V shaped face- myotonic dystrophy

Pallor, clubbing, cyanosis, icterus, lymphadenopathy, oedema feet

Anterior fontanelle

Cataract’s(Lowe syndrome)

ENT

Skull/ spine/ genitalia(hypogonadism in prader willi)

Conntractures ,CTEV, CDH

CNS EXAMINATION

Higher functions---conscious, alert looking,recognizes others.

Cranial nerves

Tongue fasciculations

Ptosis with diurnal variation

Fundus---(cherry red spot in GSD type II)

Motor system- muscle wasting (SMA)

muscle hypertrophy(pompe/ congenital muscular dystrophy)

Hypotonia in all 4 limbs

Involuntary movements- ataxia, fasciculation/ fibrillation

Power--shoulder/ elbow/ distal/ hip/ knee/ distal

Diaphragm/ intercostals

Reflexes

Superficial-------cremasteric/ gluteal/ paraspinal reflex

Deep reflexes

Sensory system

P/A-----hepatomegaly----GSD

CVS-----cardiomegaly,murmur, abnormal heart sounds(pompe)

RS--------r/o LRTI

Orthopedic examination

23

DIAGNOSIS--------month old child M/F gradually progressive/ static quadriparesis since

birth ,decreased fetal movements ,no MR, no significant pre/ perinatal events,

generalized hypotonia, areflexia, fasciculations. Most probable diagnosis

INVESTIGATIONS

Diagnosis mainly clinical

EMG---denervation of muscle

Biopsy-----to differentiate spinal muscular atrophy from other congenital myopathies

CPK, nerve conduction, serum enzymes.

MRI – hypotonic C.P. / Congenital muscular dystrophy with MR

24

CHOREA

Name Age Sex Handedness Consanguinity Community

Chief complaint & ODP

Sudden onset involuntary movements involving---------- limbs

Movements are repetitive/ non repetitive

Rhythmic/nonrhythmic

Migrating from one side to another

Preset/ absent during sleep

H/o proximal/ distal musculature being involved (sydenhams chorea is

distal, minimal brain dysfunction and huntingtons chorea are proximal)

H/o inability to feed, dress, walk (hypotonia associated)

H/o emotional lability associated with it

H/o involuntary movements involving the facial muscles Grimacing ,

oromotor dyskinesia

H/o preceeding streptococcal infection occurring as early as 4 months

prior(sydenhams chorea)

H/o recurrences of choreic movements with intermittent normal

periods(sydenhams/ SLE)

H/o receiving any periodic injections or regular oral medications(penicillin

prophylaxis)

H/o facial rash/ alopecia/ oral ulcers(SLE)

H/o ataxia/ psychosis/ seizures(SLE)

H/o ingestion of drugs(phentoin, haloperidol, INH, reserpine, dextroamphetamine,

methylphenidate)

H/o language difficulties(speech becoming indistinct and at times completely absent)

H/o any major operative intervention in the past(cardiopulmonary bypass surgery)

H/o convulsions/ tetany associated with choreic movements(Fahr disease)

H/o deteriorating school performance, jaundice(Wilsons)

H/o clumsiness with frequent falls &delayed motor milestones(benign hereditary chorea)

BIRTH HISTORY H/o perinatal asphyxia( if positive , choreic movements usually become

apparent between 1st and 3rd yr of life)

FAMILY HISTORY

Family history of rheumatic fever can be elicited in 26% choreic patients. Sydenham’s

chorea is found in 3.5% parents and in 2.1% of siblings of choreic patients.

Fahr disease is transmitted as AR or AD.

DEVELOPMENT Recent onset regression if any.

DIET , IMMUNIZATION & SOCIOECONOMIC HISTORY - AS USUAL.

25

Examination

General Condition

Vitals & Anthropometry with interpretation

Type of involuntary movement-----proximal/ distal

Exacerbated by tension/ stress

Present at rest

Repetitive/ rhythmic

Voluntary/ involuntary

Disappears/ persists in sleep

Chameleon tongue--as soon as the tongue is protruded, it returns to the mouth.

Pronator sign-------muscular hypotonia and weakness result in the palms turning

outward when the patient holds the arms above the head.

Choreic hand------hypotonia can be demonstrated when the arms are extended in

front of the body. The wrist flexes and the metacarpophalangeal joints are

overextended.

Milkmaid’s grip------the child is unable to maintain muscular contraction and the

grip waxes and wanes abruptly.

CNS EXAMINATION--- Higher functions

Tone

Power

DTR----normal but patellar reflex is hung up.

Plantars

Other system examination. - CVS – e/o carditis & PA – organomegaly

INVESTIGATIONS

X- ray skull------bilateral calcifications in the region of the basal ganglia------Fahr disease

MRI-----increase in size of caudate, putamen and globus pallidusin- sydenhams chorea

Striatal hyperintensity on T2 weighted images indicating greater striatal

damage.

OPTHAL for KF- ring.

26

CAUSES OF CHOREA

Inherited

Ataxia- telengectasia

Benign hereditary chorea

Hallervorden-spatz

disease

Hereditary spino-

cerebellar ataxia

Huntington disease

Inborn error of

metabolism

Glutaric academia

Propionic academia

Homocystinuria

Pyruvate carboxylase

deficiency

PKU

Sulfite oxidase deficiency

Mitochondrial

encephaloyopathies

Neuroacanthocytosis

Wilson disease

Paroxysmal

kinesiogenic

choreoathetosis

Paroxysmal

nonkinesiogenic

choreoathetosis

Vascular

AV malformations

Basal ganglia infarction or

haemmorhage

Moyamoya

Drugs

Anticholinergics

Anticonvulsants----phenytoin,

phenobarbitone,

carbamazepine.

Antidopaminergic---

phenothiazines,

haloperidol, metoclopramide

Antihistamines.

CNS stimulants-------

amphetamine ,

metylphenidate, pemoline.

Dopamine agonists--- levodopa,

pergolide, lithium, oral

contraceptives

Endocrine

Hyperthyroidism

Chorea gravidarum

Hypoparathyroidism,

Pseudohypoparathyroidism

Immune infections

Sydenham chorea

SLE

Bechet

Pertussis,diptheria, varicella

Primary APLA syndrome

Bacterial endocarditis

HSV encephalitis, HIV, infectious

mononucleosis, lyme,

mycoplasma,

viral meningoencephalitis

(mumps,measles, varicella)

Metabolic

Hypocalcemia ,

hypoglycemia

or hyperglycemia,

hypomagnesemia,

hyponatremia,

hypernatremia central

pontine myelinosis

renal failure

Miscellaneous

Cerebral palsy, head

trauma, BPD(infantile

chorea), CABG—

postpump chorea

Neoplastic

Primary and metastatic

brain

brain tumors

Primary CNS lymphoma

Nutritional

Vit B12 deficiency in

infants

Toxins

Carbon monoxide,

manganese, OPC.

27

HYDROCEPHALUS

Hydrocephalus represents a diverse group of conditions that result from impaired

circulation and absorption of CSF or in rare circumstance from increased production by a

choroids plexus papilloma.

Name Age Sex Consanguinity Handedness

Chief Complaints :

History of progressive enlargement of head/large head noticed since

.

History s/o raised ICT (if the onset of hydrocephalus is more than 2 yrs)

H/O abnormal eye movements (sunsetting / roving eye movements)

O.D.P.-Details of chief complaints

Abnormalities of higher functions - scholastic backwardness, altered sensorium ,

convulsions

History s/o cranial nerve palsy –diplopia sunsetting.

History of blindness or hearing disturbance.

History of focal neurologic deficit.

H/S/O gait abnormalities (spastic gait with frequent falls)

History of bladder/bowel complaints

H/o involuntary movements

History of nausea/vomiting/head banging/headache.

History of occipital enlargement (Dandy Walker)

History of poor feeding/failure to thrive / stridor (nasal encephalocele)

Etiological History

ANTENATAL HISTORY -Infection (CMV , toxoplasma , mumps) ,Drugs-(vitamin A

toxicity-pseudo tumor) , Irradiation , Antenatal detection , presentation

BIRTH HISTORY - Prematurity /Dystocia / PROM / Instrumentation

POST NATAL HISTORY – enquire - H /O trauma , H /O infection (meningitis) , H/O

Koch’s contact , H/o prolonged hospitalization after birth, H/O hypo pigmented macule

with infantile Spasm ( Tuberous sclerosis) , H/O swelling at the back & limb weakness

FAMILY HISTORY- In males Congenital aqueductal stenosis (XLR) ,

Any sibs having similar problem?

TREATMENT HISTORY – H/o treatment taken/shunt surgery

MILESTONES – delay OR regression?

Motor and mental milestones delayed. Weak head holding due to large head.

If there is neuroregression with large head then S/O ( Krabbe/Tay sachs,,

Alexander/Canavan , Post TBM )

Diet history & Socioeconomic history.

28

EXAMINATION

Vitals- BP (hypertension because of raised ICT)

Bradycardia

Shallow respiration

Antropometry with interpretation.

Skull-a) Head circumference & Shape of the skull noted.- in terms of AP diameter,

Biparietal diameter, Frontal bossing& Occipital prominence.

b) Presence of dilated veins

c) Anterior & posterior fontanelle-(note their size, shape, borders, pulsation,

tension in sitting & supine position)

d) Sutural separation

e) Transillumination-more than 2 cm in frontal & more than 1 cm in

Occipital (it is positive only if the cerebral mantle is less than 1cm).It is positive

in massive dilatation of the ventricular system or in Dandy Walker syndrome.

f) Bruit over the head-It is positive in many cases of vein of Galen AV

malformation.

g) Prominent occiput in Dandy Walker/post fossa tumor/arachnoid cyst

h) Flat occiput in achondroplasia/Arnold Chiary Malformation

i) Craniotabes

Sunsetting (paralysis of upward gaze)

Spine-Neural tube defects. Look for tuft of hair

Others-

Neurocutaneous markers-Hypo pigmented patches in Tuberous Sclerosis

Dysmorphic features/ coarse features.

Rhizomelic shortening (achondroplasia)

IU infection (Rash/lymphadenopathy/Hepatosplenomegaly/Cataracts)

Crackpot sign.

CNS Examination-

Higher functions – sensorium , speech

Cranial nerves-Sixth nerve palsy,false localizing sign.

Vision & hearing

Motor -Spasticity is generally more in the lower limb than the upper limb.

Brisk jerks in the lower limb.

Gait-Truncal ataxia is seen in Dandy Walker.

Fundus-Papilledema , Optic atrophy , Chorioretinitis , Cherry red spot

Neonatal reflexes.

Examination of spine

Shunt side, patency , Reservoir present or absent?

INVESTIGATIONS-

X-Ray skull-Calcification/sutural seperation/lacunar skull (Arnold Chiari Malformation-II)

USG skull –If the V/P ratio is more than0.33 then s/o hydrocephalus

C.T & MRI (to find the cause)

29

Intracranial CSF pressure monitoring

Others-EEG (If associated with convulsions) , Lumbar puncture ,Slit lamp examination

Angiography –To look for aneurysm of vein of Galen

To monitor complications- Hb, CBC, Urine, Lumbar puncture to rule out shunt infection

DIAGNOSIS----------months/years old child with progressive ,gradual enlargement of the

head with s/o raised ICT with/without other deficits, the mental age of the child

being------,motor age being---------Diagnosis being Hydrocephalus most probably due to

-------(D/D of hydrocephalus)

Some important points to remember in examination:

1) Measure the head circumference until a constant result around the largest diameter is

obtained

2) Take the parents head circumference.

3) Request the progressive percentiles of the child.

4) Examine the back to avoid missing spinal dysraphism.

5) Examine the lower limbs before the upper limbs because the lower limbs are affected

first in hydrocephalus as the tracts supplying them run closer to the ventricles.

6) Examine the eye movements-Lateral rectus palsy because of raised intracranial

tension/Upward gaze palsy.

Always look for the following effects of Hydrocephalus-

1) Motor-Focal deficits may be present in the opposite limb when Hydrocephalus is

associated with porencephalic cyst.

2) Eyes-Squints decreased pupillary light reflex, horizontal nystagmus, and cortical

blindness.

3) Endocrine-Precocious puberty/Delayed puberty, Short stature, Hypothyroidism,

hypopituitarism.

4) Tremors-S/O Cerebellar herniation

5) Stridor with laryngeal palsy-It is due to coning esp. when associated with Myelocele.

DIFFERENTIAL DIAGNOSIS OF HYDROCEPHALUS

1) Thickened cranium secondary to chronic anaemia, rickets, osteogenesis imperfecta

& epiphyseal dysplasia.

2) Chronic subdural collection

3) Megalencephaly due to storage of abnormal substances within the brain

parenchyma. It is seen in storage disorders/metabolic disorders/ neurocutaneous

syndromes. Neurofibromatosis & cerebral gigantism are characterized by an

increase in brain mass.

5) Familial megalencephaly

6) Hydrencephaly

30

MENINGOMYELOCELE

The term spinal dysraphism indicates Neural tube defect whereas the term

myelodysplasia indicates spinal cord malformation About 75% of patients with

meningomyelocele have hydrocephalus whereas patients with only meningocele rarely

have hydrocephalus.

The causes of hydrocephalus in MMC are- Meningitis

-Type II Arnold Chiary malformation

-Aqueductal stenosis

Name Age Sex Consanguinity Handedness

Chief Complaints :

Fluid filled swelling in the back with /without CSF leak

Convulsions / tonic spasms

Para paresis/Paraplegia

ODP of chief complaints

H/O weakness in the lower limbs

H/O muscle wasting

H/O involuntary movements /fasciculations

H/O sensory symptoms

H/O bladder /bowel involvement (retension / incontinence)

H/O Cranial nerve involvement

History of complications

H/o of CSF leak

H/o signs of raised ICT-vomiting/convulsions/increasing head

Circumference /altered sensorium

H/O infection-Fever/ Convulsions/Altered sensorium

H/O Bladder/Bowel involvement

H/O rupture of sac during birth process

ANTENATAL HISTORY-

H/O Maternal malnutrition-s/o folic acid deficiency

H/O drug ingestion during pregnancy -Thalidomide/valparin/ phenytoin

H/O hair loss /Skin lesions ,s/o zinc deficiency

H/o alcohol ingestion during pregnancy

H/o polyhydramnios

H/o X-Ray/ irradiation during pregnancy

H/o maternal Diabetes Mellitus

H/O fever/rash/ lymphadenopathy during pregnancy(s/o IU infection)

PREVIOUS OBSTETRIC HISTORY

H/O previous fetal death

H/O repeated abortions

H/O mental retardation/other congenital anomalies

FAMILY HISTORY

H/O other siblings affected with similar complaints

31

EXAMINATION

A) General Physical Examination

Vitals

Pallor/Icterus/ Lymphadenopathy

Anthropometry with interpretation

Skull Examination-

Headcircumference/transillumination/fontenelles/separation of

sutures.

Eyes –Look for conjugate movements of eyes

Neurocutaneous markers

B) Examination of the back

Location, size & shape of the defect

Leakage from the sac

Curvature of the spine/bony gibbus underlying the defect

C) CNS Examination-

Higher functions

Spontaneous activity

Cry/Tone/ Reflexes

Response to sensory stimuli in all extremities

Motor activity esp. in the lower limbs

Examination of the Cranial nerves

Anal reflex-May or may not be present depending on the level of lesion.

Wasting of muscles

Look for CDH & CTEV

D) CVS Examination-Rule out congenital heart disease

E) Abdomen-Rule out renal malformation.

INVESTIGATIONS

1) Routine investigations

2) X-Ray-Chest

-Spine

-Pelvic Joints

3) CT Scan Brain

4) MRI-If suspecting posterior fossa tumor& syringomyelia

5) Tests of Renal Functions-Urodynamic studies

-IVP

-USG of urinary tract

-MCU

6) Tests of vision & hearing

NEUROLOGIC SYNDROMES IN MMC

A) Above L3-Complete paraplegia

-Dermatomal anesthesia

-Bladder & bowel incontinence

B) L4 & Below-Same as for above L3 except for the preservation of hip 32

Flexors, hip adductors& knee extensors

-The child is ambulatory with aids, bracing or surgery

C) S1 & Below-Same as for L4 & below except for preservation of feet dorsiflexors &

partial preservation of hip extensors & knee flexors

-The child is ambulatory with minimal aids.

D) S3 & below-Normal lower extremity motor function

-Saddle Anesthesia

-Variable bladder-rectal incontinence.

33

APPROACH TO PARAPLEGIA

Before considering approach to paraplegia let us see the anatomic considerations:-

A disparity exists between vertebral and segmental spinal cord(s.c.) levels that changes

with age. Early in fetal life the s.c. extends through out the bony vertebral column, but

during later development vertebral column becomes longer than s.c. so that the caudal

end comes to lie at level L2 at birth and in adulthood at L1 ;the lowest part being conus

medullaris.Below L1 are only lumbosacral roots –the cauda equina. White matter tracks

contain ascending sensory and descending motor pathways are located peripherally,

whereas nerve cell bodies are clustered in inner region shaped like a clover leaf. S.C.

contains 31 segments each containing exiting ventral motor root and entering dorsal

sensory root (31 pairs of spinal nerves=8 cervical,12 thoracic, 5 lumbar,5 sacral, 1

coccygeal.).

The approximate relationship between S.C.segments and corresponding vertebral bodies

is as shown which is helpful in localising lesions in S.C. compression.

Spinal cord level Corresponding vertebral body

Upper cervical Same as cord level

Lower cervical 1 level higher

Upper thoracic 2 levels higher

Lower thoracic 2-3 levels higher

Lumbar T 10-12

Sacral T 12- L1

Coccygeal L 1

Vascular supply of S.C.:The anterior and posterior spinal arteries(S.A.) arise from the

vertebral arteries and travel caudally,the former in antero median fissure and the two later

along side the posterior nerve roots. These long vessels receive tributaries from the

intercostals and lumbar arteries at each spinal level.In the lumbar region one prominent

artery-Adamkiewicz is an important tributary.The ant.S.A. supplies most of the S.C.;only

the post. Parts of the post.horns and post.columns are supplied by the post. Spinal

arteries.Both ant.and post. S.A.function as anastomotic vessels linking radicular feeding

vessels.Flow may thus vary in different directions.There are two zones of watershed flow

in the cord ,one in upper thoracic between flow descending from the vertebral circulation

and flow derived from thoracic radicular feeding vessels,and other in lower thoracic region

between descending flow derived from thoracic feeding vessels and ascending flow from

artery of Adamkiewicz.These are sites of prediliction for infarction of the S.C.

Approach :

What are the presenting complaints:

Partial or complete weakness of both the legs: most commonly as result of an intraspinal

lesion at or below the upper thoracic spinal cord level or because of peripheral nerve

disease.

Is it acute or slowly progressive?

Acute Slowly progressive

34

Trauma

Concussion , Epidural hematoma , , Fracture

dislocation , Cord transaction

Transverse myelitis

Devics disease , Encephalomyelitis

Idiopathic

Discitis

Epidural abscess

Herpes zoster myelitis

Infarction of spinal cord

Cardiogenic emboli , Hypotension

Vasculitis & Surgeries on aorta

Hematomyelia

Bleeding disorders , Vasculitis, Trauma

Intraparenchymal vascular

malformations

Extrinsic compression

Hemorrhage into subdural/epidural space

Polyradiculoneuropathy

Adrenomyeloneuropathy

Congenital malformations

A-V malformations , Arachnoid cysts ,

Caudal regression syndrome , Dysraphic

states (Chiari Malformation,

myelomeningocoele , tethered spinal cord, Syringomyelia Familial spastic papaplegia

Autosomal recessive / Auto. dominant /

X -linked

Infections

T.B. osteomyelitis

Tumours

Extradural(neuroblastoma)

Intradural(meningioma,neurofibroma )

Intramedullary(ependymoma)

Symptoms/-ve history that can give clue to diagnosis:

Clumsiness of gait--------------slowly progressive disorder

Refusal to stand/walk-----------acute process

Abnormal skin over spine(tuft of hair, pigmentation, sinus opening,mass)-----spinal

dysraphism

Foot deformities,stunted growth of limbs----Lower spinal cord dysfunction,tethered

cord,caudal regression syndrome

Bowel/bladder control disturbance

Ask following questions:

Is there any sense of bladder filling?

Can the patient feel the urine passing?

Can the patient stop urine passing at will?

Is there associated rectal disorder?

Is there any numbness in perineum?

Answers to above can identify following bladder problems and possible lesions

Uninhibited bladder(urgency at low bladder volume,sudden uncontrolled evacuation,no

residual urine)-----parasaggital lesions

Spinal bladder (bladder fullness not appreciated,it empties suddenly and reflexly,

incomplete evacuation,spastic bladder holding small volume urine)----spinal cord

lesion,conus lesion

Autonomous bladder(continuous dribbling incontinence,considerable residual urine

which may cause UTI,no sensation of bladder fullness,perineal numbness)---cauda

equina lesion

Seizures,drowsiness,enlarging head,apnea,abnormal respiration----- lesion above

spinal cord like Ant cerebral artery ischaemia, parasaggital meningiomas,superior

sagittal sinus thrombosis, hydrocephalus(Chiari malformation),diffuse

encephalomyelitis35

History of diarrhoea/viral upper respiratory illness prior to weakness----acute

demyelinating neuropathy

Trauma to spinal cord---conditions as described above in aetiology

Easy fatiguability, vomiting ,diarrhoea, failure to thrive, hyperpigmentation of

skin----adrenomyeloneuropathy

Fever,viral illness prior to weakness, vaccination history-----transverse myelitis

Vision loss-----Devic’s disease

Family history of progressive lower limb weakness, toe walking in child progressing

to gradual weakness of lower limbs-----Familial spastic paraplegia

High grade fever , back pain-------discitis

History of root irritation---radiating pain on coughing/bending back--epidural lesions

Rash on skin dermatomal pattern----herpes zoster myelitis

H/o suggestive of immunosuppression -recurrent diarrhoea/ LRTIs/AIDS myelitis

Long standing fever,chronic cough, family h/o kochs, back pain,refusal to walk----

TB osteomyelitis

Birth history of prematurity-----------spastic diplegia

Limpness of lower extremity acutely------GBS,Transverse myelitis

Chronic back pain, no fever--------arachnoid cysts,AV malformations

Butterfly rash on face-----SLE

Umbilical artery catheterization-----neonatal cord infarction

Examination of CNS

Scoliosis: Spinal cord disorders like neural tube defects,spinal cord tumours,degenerative

spinal disorders,neuromuscular disease

Higher function: Sensorium impaired in encephalomyelitis

Cranial nerves: VII commonly in GBS,II in Devics disease

Difference between S.C. and peripheral nerve lesions:

Spinal cord involvement Peripheral nerve involvement

Spasticity Symmetrical distal weakness and wasting

Dermatomal sensory loss Symmetrical distal sensory impairement

Exaggerated reflexes(except spinal shock) Loss of tendon reflexes

Level of lesion: Superficial reflexes of spinal origin for localization

Reflex Level of cord concerned

Anal S3,4

Bulbocavernosus S3, 4

Plantar S1

Cremasteric L1,2

Abdominal T7-12

The level below which sensory,motor,&/or autonomic function is disturbed is a hallmark of

S.C. disease. In general a sensory level to pinprick or temperature,indicating damage to

the spinothalamic tract,is located 1-2 segments below the actual level of a unilateral

spinal cord lesion,but it may be at the level of the lesion when bilateral.That is because

sensory fibres enter cord at dorsal root,synapse in dorsal horn,and then ascend

36

ipsilaterally for several segments before crossing just anterior to central canal to join

opposite spinothalamic tract.

Lesions that disrupt descending corticospinal and bulbospinal tracts cause paraplegia or

quadruplegia,with increasd muscle tone,exaggerated deep tendon reflexes(DTR) and

extensor planter signs.Such lesions also typically produce autonomic disturbances,with

disturbed sweating and bowel bladder disturbances.A sweat level may be determined by

drawing a spoon up the torso,there will be little resistance to movement of the spoon

along the dry,non sweating skin;at the level at which sweating begins,resistance will

suddenly increase.

The uppermost level of spinal cord lesion is often localized by attention to segmental

signs corresponding to disturbed motor or sensory innervation by an individual cord

segment.A band of altered sensation (hyperalgesia/pathia) at the upper end of the

sensory disturbance,fasciculations or atrophy in muscles innervated by one or several

segments ,or a single diminished or absent DTR may be noted. These signs may also

occur with focal root or peripheral nerve disorders;thus,segmental signs are most useful

when they occur with other signs of cord disease.

With severe and acute transeverse lesions ,there may be flaccidity of limbs rather than

spasticity (so-called spinal shock)This may last for several days ,rarely for weeks and

may be initially mistaken for extensive damage to spinal cord or polyneuropathy.

Spinal myoclonus:- Brief ,irregular contractions of small muscle groups due to irritation to

pools of motor neurons & interneurons due to syrinx or intramedullary

tumour.Dermatomal distribution shows site of irritation in spinal cord

Patterns of Spinal cord.disease:

Most fiber tracts-including the post.columns and the spinocerebellar and pyramidal tracts

–travel ipsilateral to the side of the body they innervate. Afferent fibers carrying pain and

temp. sensation ascend contralaterally as spinothalamic tract. The anatomic relationships

produce distinctive clinical syndromes.

Brown –Sequard hemicord syn.:-Ipsilateral weakness(pyramidal tract) and loss of joint

position and vibratory sense (post column),with contralateral loss of pain and temp.

sense(spinothalamic tract) below the lesion.The sensory level for pain and temp. is1-2

levels below the lesion. Segmental signs , like radicular pain ,muscle atrophy or loss of

DTR ,when occur are unilateral. Bilateral hemicord lesions are more common.

Central cord syndrome:It results from disorders of gray matter nerve cells and crossing

spinothalamic tracts near the central canal.In cervical cord it produces arm weakness out

of proportion to leg weakness and dissociated sensory loss consisting of loss of pain and

temp. in cape distribution over shoulders ,lower neck and upper trunk with intact light

touch ,joint posn and vibration. Common causes are trauma , syringomyelia,tumours and

ant. Spinal artery ischaemia.

Ant.2/3rd syndrome:-Due to bilateral extensive disease of S.C. that spares post

columns.All S.C. functions-motor ,sensory and autonomic-are lost below the level of

lesion,with the striking exception of intact vibration and position sensation.Etiology is

vascular –thromboembolism of ant. Spinal artery.

Intramedullary and extramedullary syndromes:

37

Distinguishing features are relative and serve as rough guides to clinical decision making:

Intrinsic disease Extrinsic disease

Urge incontinence/retention of urine Root pain,worse on movement

Dissociated sensory loss Early sacral sensory loss

Spinothalamic pain Progressive asymmetric spastic paraplegia

Bilateral corticospinal tract signs(late appearance) Brown –Sequard syndrome

Paraplegia and sensory level Paraplegia with sensory level

Sensation in perineal & sacral area spared Incontinance/retention of urine and faeces

Specific localizing signs:

Thoracic cord:-Lesions are best localized by identification of sensory level on the

trunk.Sensory dermatomes of the body are shown in fig.2,useful markers are at

nipples(T4) and umbilicus(T10).Weakness of legs and disturbances of bladder ,bowel

function may accompany.Abdominal wall musculature,supplied by lower thoracic cord , is

observed during movements of respiration or coughing or by asking patient to interlock

fingers behind the head in supine posn and attempt to sit up.Lesions at T9-T10 paralyse

the lower ,but spare the upper abdominal muscles resulting in upward movement of

umbilicus( Beevor’s sign) and loss of lower but not upper superficial abdominal

reflexes.Midline backpain is a useful localizing sign in the thoracic region.

Lumbar cord:Lumbar and sacral cord segments progressively decrease in size ,focal

lesions of these segments are less easily localized than in cervical and thoracic regions.

Lesion at L2-L4 paralyse flexion and adduction of the thigh,weaken leg extension at knee

and abolish patellar reflex.Lesions at L5-S1 paralyse movements of foot and ankle,flexion

at knee and extension of thigh and abolish ankle jerk(S1).Cremasteric reflex(L1-

L2)localizes lumbar cord disease.

Sacral cord/conus medullaris

Isolated lesions of conus spare motor and reflex functions in the legs.Conus syndrome is

distinctive-Bilateral saddle anesthesia(S3-S5),prominent bowel and bladder dysfunction

(urinary retention and incontinence with lax anal tone).Bulbocavernosus (S2-S4) and anal

(S4-5) reflexes are absent.Muscle strength is largely preserved.

Cauda equina lesions are characterized by severe low back or radicular pain, asymmetric

leg weakness or sensory loss , variable areflexia in lower extremities , and relative

sparing of bowel and bladder functions.Mass lesions in lower spinal canal may produce

mixed clinical picture-cauda and conus syndromes

38

Guillian Barre Syndrome

It is an important cause of acute flaccid paralysis (AFP)–a collection of clinical syndromes

manifested by an acute inflammatory polyradiculopathy with resultant weakness and

reflex changes.

Name Age Sex Consanguinity Handedness

Chief complaint History of weakness in limbs-AFP which is acute onset of flaccid paralysis (<2 months)

Unilateral /Bilateral weakness of limbs Bilaterally symmetrical or asymmetrical weakness Where does it start:From lower limbs and progresses upwards or vice versa Sudden or insidious onset Proximal or distal weakness Involvement of upper or lower limb Involvement of respiratory muscles: anxious expression, difficulty in breathing,

inability to speak without frequent pauses Involvement of bulbar muscles-pooling of secretions in mouth, nasal

regurgitation/nasal twang, dysphagia,dysarthriaAssociated history/-ve history:

Higher function abnormalities (sensorium, speech)

Cranial nerve deficit: facial asymmetry,drooling saliva from angle of mouth(VII N);

nasal twang,regurgitation(IX,X N),diplopia,eye movements(III,IV,VI N)

Sensory disturbances-tingling numbness, pain.

Abnormal gait / posture( tripod sign)

Bladder/bowel disturbance

Autonomic disturbances:flushing,sweating ,palpitations, postural hypotension

Ataxia ,involuntary movements

Wasting of muscles

H/S/O increased intracranial pressure

Etiological history:

Diarrhoeal /upper respiratory illness weeks prior to paralysis----GBS

Immunisation -OPV, IM injection & fever prior to paralysis –(-Polio )

Paralysis early morning after food ingestion,previous history or familial history of

paralysis----Periodic papalysis

Throat pain ,dysphagia,neck swelling(bull neck)---Diptheria

Consumption of honey/tinned food ( botulism)

H/O drug intake – vincristine , vinblastine

H/O pica (heavy metal intoxication (lead))

H/O trauma to spine

H/O polyuria / polydipsia / weight loss (DM)

H/O fever with exanthem(herpes, mumps , rubella, entero/ EBV)H/O pain swelling

Birth, Immunisation history (especially OPV),

Developmental, dietary history

Examination:

Decubitus especially of lower limbs—Demonstate flaccidity

Vital parameters: Heart rate,Blood pressure for autonomic dysfunction

Throat---patch for diptheria

39

Anthropometry with interpretation

Blue line on gums NC markers

Spine

CNS Drooping of shoulder s/o diaphragmatic paralysis Fasciculations Thickened nerves Reflexes Superficial – important as in case of transverse myelitis for level of the

lesion Signs of meningeal irritation

Features suggestive of GBS are

Ascending weakness,symmetrical involvement Lower limbs involved before upper limbs Proximal involvement earlier than distal Weakness progressing over days to weeks with peak maximally at 4 weeks Deep tendon reflexes absent even before paralysis. Cranial nerves: common VII nerve If abnormal gait(ataxia) with eye movements impaired(opthalmoplegia)---Miller

Fischer variant Bladder distension

Other variants:

The acute motor axonal neuropathy (AMAN) variant has pure motor symptoms - very similar clinical presentation to patients with the demyelinating form of GBS with ascending symmetric paralysis.

The axonal form of GBS, also referred to as acute motor-sensory axonal neuropathy (AMSAN), often presents with rapid and severe paralysis with delayed and poorer recovery .

A pure sensory variant of GBS , typified by rapid onset of sensory loss and areflexia in a symmetric and widespread pattern.

Acute pandysautonomia without significant motor or sensory involvement is a rare presentation of GBS. Dysfunction of the sympathetic and parasympathetic systems results in severe postural hypotension, bowel and bladder retention, anhidrosis, decreased salivation and lacrimation, and pupillary abnormalities.

The pharyngeal-cervical-brachial variant is distinguished by isolated facial, oropharyngeal, cervical, and upper limb weakness without lower limb involvement. Other variants with restricted patterns of weakness -are rare

Respiratory system

Involvement of respiratory muscles: increased respiratory rate , movements of alae

nasi and other accessory muscles of respiration , inability to cough or sniff with full

depth ,Single breath count .Paradoxical abdominal movements due to diaphragmatic

immobility .Deltoid paralysis suggests impending respiratory paralysis

Observation of patient’s capacity for thoracic breathing while abdominal muscles are

splinted manually

Light manual splinting of thoracic cage helps assessment of diaphragmatic movts.

PA see for phantom hernia on abdominal wall ( polio)

CVS muffled heart sounds (viral myocarditis, diphtheria)

Diagnosis …..yr old male/female with H/o acute onset progressive / non progressive

flaccid weakness with/ without central signs , with/ without signs of meningeal irritation

with/ without respiratory embarrassment most probably --------

Differential diagnosis of GBS - shown in the table below

40

Polio Guillain-Barré syndrome Traumatic neuritis Transverse myelitis

Installation of

paralysis

24 to 48 hours onset to

full paralysis

From hours to 10 days From hours to 4 days From hours to 4 days

Fever at onset High, always present at

onset of flaccid

paralysis, gone the

following day

Not common Commonly present before,

during and after flaccid

paralysis

Rarely present

Flaccid paralysis Acute, usually

asymmetrical,

principally proximal

Generally acute,

symmetrical and distal

Asymmetrical, acute and

affecting only one limb

Acute, lower limbs, symmetrical

Muscle tone Reduced or absent in

affected limb

Global hypotonia Reduced or absent in

affected limb

Acute, lower limbs, symmetrical

Sensation Decreased to absent Globally absent Decreased to absent Absent in lower limbs early

hyperreflexia late

Deep-tendon

reflexes

Severe myalgia,

backache, no sensory

changes

Cramps, tingling,

hypoanaesthesia of palms

and soles

Pain in gluteus, hypothermia Anesthesia of lower limbs with

sensory level

Cranial nerve

involvement

Only when bulbar

involvement is present

Often present, affecting

nerves VII, IX, X, XI, XII

Absent Absent

Respiratory

insufficiency

Only when bulbar

involvement is present

In severe cases,

enhanced by bacterial

pneumonia

Absent Sometimes

Autonomic signs &

symptoms

Rare Frequent blood pressure

alterations, sweating,

blushing and body

temperature fluctuations

Hypothermia in affected limb Present

Cerebrospinal

fluid

Inflammatory Albumin-cytologic

dissociation

Normal Normal or mild in cells

Bladder

dysfunction

Absent Transient Never Present

Nerve conduction

velocity: third

week

Abnormal: anterior

horn cell disease

(normal during the first

2 weeks)

Abnormal: slowed

conduction, decreased

motor amplitudes

Abnormal: axonal damage Normal or abnormal, no

diagnostic value

EMG at three

weeks

Abnormal Normal Normal Normal

Sequelae at three

months and up to

a year

Severe, asymmetrical

atrophy, skeletal

deformities developing

later

Symmetrical atrophy of

distal muscles

Moderate atrophy, only in

affected lower limb

Flaccid diplegia atrophy after

years

41

PSYCHOMOTOR REGRESSION

Name : Age : Sex : Informant: Consanguinity Handedness Community -

Chief complaints :-

- loss of achieved mile stones

- convulsions

- progressive increase in size of head

- vision / hearing / speech regression

Narrative History :-

1] Convulsions :- generalised tonic, clonic, myoclonic, tonic spasms, focal

- (convulsions suggest that the disease involves grey matter

degeneration

eg, Alper poliodystrophy, Neuronal ceroid Lipofuschinosis )

- In certain epilepsy syndromes, convulsions are the hallmark which

precede the onset of regression.

e.g. West Syndrome - Infantile spasms - Lennaux Gestaut syndrome -

tonic spasms .

Certain aminoacidopathies& organic acidurias patients / urea cycle

defects convulsions may be due to metabolic disturbances like

hypoglycemia, hyperammonemia etc )

- SSPE - Myoclonic jerks

2] Progressive dementia / personality changes-

- Scholastic backwardness - SSPE, HIV, encephalopathy

Wilson’s disease.

- Behavioural changes - hyperactivity - sanfillipo, X linked ALD,

- Autistic behavioural - Autism, Rett's Syndrome

3] Loss of motor milestones - eg. loss of head control, turning over.

Period over which these milestones are lost in important.

Progressive - Neuro degenerative disorders

Sudden - Post encephalitis

- Mitochondrial disorders like MELAS

White matter degeneration is characterised by focal neurological deficits /

spasticity / blindness or hypotonia (looseness of body).

4) Progressive disturbance of gait and co-ordination

- X linked Adrenoleuko dystrophy

- Progressive hydrocephalus

Focal neurological deficits - mitochondrial disorders

5] Vision problems :

1] Progressive loss of vision hydrocephalus, Tay sachs disease

Neuronal ceroid hipofuschinosis,

Wilson's disease ( Cataract)

2] Visual inattention - autistic spectrum disorders, Rett's syndrome

42

6] Speech abnormalities - Aphasia -

expressive aphasia - Rett / autism

Dysarthria - cerebellar disorders ( Juvenile MLD)

7] Ataxia - MLD, ALD, Spasms nutan - pelizeus merchbacker

8] Involuntary Movements -

Chorea, athetosis - Huntington , Wilson, pelizeus merchbacker

Dystonia / Dyskinesis -

Hand wringing, washing, tapping movement

Sterotypy - Rett's syndrome

9] Akinesia - Leigtis encephalomyelopathy, parkinsonian features

H/o. complication - contractures / bedsore Repeated infections

10] Increasing head size - progressive hydrocephalus, Alexander / Canavan

11] Sensory disturbances - trophic ulcers

associated with peripharal neuropathy - MLD, INAD, krabbes

12] Progressive bulbar symptoms - feeding difficulties

13] H/o. Repeated vomiting, failure to thrive - neurometabolic disturbances

aminoacidopathies / organic acidemias

14] H/o. fever,, altered sensorium / convulsions Encephalitis

H/o. lethargy, constipation, neck swelling hypothyroidism.

15] H/o. Jaundice - Wilson's

16] H/o. Measles - SSPE

17] H/o. Self mutilation Lesch nyhan syndrome

18] Family history of similor illness in other sib / sib death

19] H/o. Breathing abnormalities

20] Birth history

21] H/o. typical body / urine adore

22]H/o. complication - contractures / bedsore Repeated infections

23] Developmental history - Details of milestones - normal / delayed prior to

onset of regression.

24] Diet history

25] Immunisation history

EXAMINATION

General examination

Decubitus

Temp. Pulse respiration BP

Anthropometry with interpretation

- size & shape of skull - overriding of sutures

- Anterior fontanelle

- Dysmorphic features - Grotesque features, Hypothyroid / MPS

- NC markers - Tuberous sclerosis, ataxia telengiectasia, café au lait spots

Chediac Higashi

- Skin changes - Hypothyroidism - Xerodema pigmentosa

- Hair - menke's kinky hair43

- Trophic ulcers - (peripharal neuropathy)

- Self mutilation - Lesch nyhan

Fundus :- optic atrophy

Cherry red spot

Retinitis pigmentosa

Central nervous system Examination -

PA - organomegaly

Diagnosis:

__________year M/F_____, BO_______ Marriage ______ of ________community,

with acute / insiduous onset of regression of motor / mental milestones with visual

/hearing impairment, with spasticity / hypotonia, with micro/macrocephaly, with seizures

with/without abnormal movement with/without

HS megaly suggesting involvement of grey/white matter, most probable

Differential diagnosis ….

NEUROREGRESSION

A neurodegenerative disease is defined as any disorder in which a patient sustains a

loss of previously acquired developmental milestones, or a decreased velocity of

acquired development.

History

Most important aspect

Genetics and involved members

Early milestones achieved normally or delay from onset?

History of early features of regression

How has it progressed?

Associated features - seizures, skin lesions.

Is it predominantly white or grey matter involvement ?

Inheritance

Is it neuroregression?

White vs Grey matter involvement

Mainly myelin tracts involved Mainly neurons involved

Loss of motor skills Seizures

Spasticity Intellectual changes

Ataxia Visual loss

Seizures

Type depends on maturity, location and nature of causative lesion

Newborn - multifocal clonic, tonic

2-12 mths - infantile spasms

1-2 years - minor motor sz of akinetic, myoclonic type

3-5 yrs - typical and atypical absences polymyoclonus, GTCs.

Predominant neurological abnormality

Predominant abnormalities - correlate quite well with pathology

Motor loss, visual loss-white matter

44

Seizures, intellectual and behavioural changes-grey matter

Chorea, dystonia, tremor, rigidity, ballismus-basal ganglia

Ataxia, unsteady gait, hypotonia-cerebellum

Depressed reflexes-peripheral neuropathy

Grey Matter Involvement

Poliodystrophies / Alpers disease

Progressive neuronal degeneration of childhood with hepatic involvement

Ceroid Lipofuscinosis (NCL/Battens disease)

Infantile - Santovuori - Hagberg

Late infantile - Jansky - Bielschowski

Juvenile - Spielmeyer - Vogt

Adult - Kufs

Menkes Kinky hair disease

Retts syndrome.

Basal Ganglia Involvement

Heredodegenerative

Hallervorden Spartz disease

Idopathic torsion dystonia

Ataxia telangiectasia

Pelizaeus Merzbacher disease

Huntingtons disease

Neuroaxonal dystrophy (infantile tyype)

Cerebellar Involvement

Metabolic causes:

Adrenomyeloneuropathy

GM1 and GM2 gangliosidosis

Refsums disease

Hereditary Spinocerebellar ataxias

Autosomal recessive - Freiderichs ataxia , Autosomal dominant & X linked cerebellar

ataxia

Metabolic causes :

Wilsons disease

GM 1 and GM 2 gangliosidosis

Metachromatic leucodystrophy

Ceroid lipofuscinosis

Lesch - Nyhan syndrome

Homocystinuria

Methylmalonic and Propionic aciduria

Glutaric aciduria

Mitochondrial disorders

Infective causes; SSPE

Others

Alpers disease

HIV encepalopathy

Pelizaeus Merzbacher disease

Ataxia Telangiectasia

Myoclonus Opsoclonus

SSPE45

Examination:

Skin and hair

Menkes - pili torti

Ataxia Telengiectasia - ears, eyes, eyes, side of nose

Farbers - subcut nodules, swollen joints, dysphonia

Optic atrophy Cherry Red Spot:

PMD Mucolipidosis

Neuroaxonal dystrophy Tay Sachs disease

Spongy degeneration Sandoffis disease

Juvenile Gauchers Niemann Pick disease

MPS - Hurler, Hunters

Frederiech’s ataxia Macular degeneration

Hallervorden Spatz Hallerverdan Spatz

Lafora disease Abetalipoproteinemia

Adrenoleucodystrophy NCL - Late infantile Juvenile

Krabbes disease Refsums disease

NCL

Ophthalmology -Disorders with ocular movements

Ataxia telangiectasia

Niemann Pick disease

Leighs disease

Juvenile Gaucher’s

Frederichs ataxia

Abetalipoproteinemia

Pelizaeus Merzbacher disease

Infantile Gaucher’s

Peripheral Neuropathy

Krabbes

Metachromatic Leucodystrophy

Leighs disease

Hepato splenomegaly

With dysmorphism without dysmorphism

GM1 Gangliosidosis Niemann-Pick

MPS Gauchers

Mucolipidosis Farbers

Zellweger’s

Head size

Microcephaly Progressively enlarging head

Alpers Canavans

Menkes Alexanders

Krabbes Late state Tay Sachs

MLD Glutaric aciduria

Retts Vanishing white matter

46

D/D of Progressive Myoclonic Epilepsy

Nonketotic hyperglycinemia

Neuronal ceroid lipofuscinosis

Alpers

Menkes

Lafora disease

MELAS

SSPE

Myoclonic epilepsy with ragged red fibres

White matter involvement

Metachromatic leucodystrophy

Globoid cell (Krabbe's) leucodystrphy

Adrenoleucodystrophy

Zellwegers syndrome, neonatal ALD

Canavan's disease

Pelizeaus Merzbacher disease

Alexanders disease

Leucodystrophy-calcification of basal

ganglia

Leucodystrophy-vanishing white matter

Investigations

MRI, MR angiogram, MR spectroscopy

Ophthal

ERG,VEP,BERA

EEG

EMG/NC

CSF - lactate,pyruvate,proteins,IgG

Blood - enzymes,VBG,anion gap amino acids,

VLCFA,Cu,ceruloplasmin

Urine - organic acids,amino acids.

47

Approach to a case of Congenital Heart Disease

5 Basic questions to be answered in every case:

1) Cyanotic or Acyanotic?

2) Increased Pulmonary Blood Flow / Decreased PBF?

3) Origin of the lesion is in the Right /Left heart?

4) Which is the dominant ventricle?

5) Presence/ absence of Pulmonary Hypertension?

The common cases of Acyanotic Heart lesions with a left to right shunt:

ASD, VSD, PAPVC, PDA, AP-Window, Endocardial Cushion Defect.

Cyanotic lesions:

With Increased PBF:

TGA

DORV

Truncus Arteriosus

TAPVC

Single Ventricle

Common Atrium

Tricuspid Atresia with VSD.

With decreased PBF:

Pulmonary Atresia with intact

ventricular septum

Ebstein’s Anomaly

Single Ventricle with Pulmonary Stenosis

Tetralogy of Fallot’s

TGA with PS

DORV with PS.

Conditions with Pulmonary Hypertension :

ASD,VSD, PDA with Eisenmenger’s Complex (reversal of shunt from Right to

Left) , Hypoplastic Left Heart Syndrome, TAPVC with increased

Pulmonary Vascular Resistance.

HISTORY TAKING:

ANTE-NATAL HISTORY:

H/o infections, disease and drugs in the mother.

Infections: Maternal Rubella during the first trimester causes PDA/ PS

CMV, HSV and Coxsackie-B during later trimesters may cause

Neonatal Myocarditis.

Maternal Disease: e.g. Diabetes Mellitus - TGA/Cardiomyopathy.

SLE - Complete Heart Block

Drugs/Medications: e.g. Anticonvulsants –Aortic Stenosis /Pulmonary

Stenosis/ Coarctation of Aorta (CoA)

48

Alcohol - Septal Defects viz.ASD / VSD.

Lithium – TGA.

NATAL HISTORY:

Birth Weight: If e/o IUGR – R/o Intra-uterine infections.

If e/o LGA – R/o Infant of Diabetic Mother.

POST NATAL HISTORY:

- H/o poor weight gain / Failure to thrive ( weight more affected than height ).

- H/o Poor feeding i.e. suck-rest-suck cycle due to fatigue and dyspnoea due

to increased PBF.

- H/o tachypnoea with/without dyspnoea (which worsens during feeds)

(Sleeping Respiratory rate of > 40 breaths/min).

- H/o periorbital puffiness / edema (s/o systemic venous congestion).

- H/o frequent respiratory tract infections (due to Left to Right shunt with

increased PBF ).

- H/o decreased exercise tolerance (seen with Left to right shunts, cyanotic

lesions, valvular abnormalities and arrhythmias) .

Ask in terms of inability to climb stairs/walk short distances/play outdoor

games as compared to other children of the same age.

HISTORY OF MODES OF PRESENTATION:

1) History of Murmur :

Time of detection – In neonatal age: AS/PS/Small VSD/PDA.

In Early infancy: Large VSD/PDA (after 6-8

weeks i.e. regression of the PVR)

If incidently found during fever/pre-school

evaluation – innocent murmur.

Most common conditions which may present as asymptomatic murmur :

VSD,ASD, PDA, PS, CoA, AS.

2) H/o Cyanosis :

Presenting in the first week of life – (all ‘T’):

TGA, Truncus Arteriosus ,Total AV-Canal Defect ,Total Pulmonary

Atresia , Tricuspid Atresia, Tricuspid Regurgitation with Ebstein’s

anomaly of the Tricuspid Valve.

After first week of life – Tetralogy of Fallot’s, Total Anomalous

Pulmonary Venous Circulation.

3) H/o Cardiac Failure:

First week of life – CoA, Critical Aortic Stenosis,Truncus Arteriosus

and Hypoplastic Left Heart Syndrome.

Early infancy- Large VSD, Common AV-Canal Defect, Large PDA

49

and TAPVC.

Later age – SVT/Arrhythmias, Myocarditis, Cardiomyopathy.

4) H/o Chest pain : Ask about –

A) Duration of pain.

B) Nature of pain (stabbing/sharp/squeezing).

C) Radiation to other parts of the body (neck, arm, etc).

D) Activity related / at rest.

E) Accompanied by palpitations/syncope/dizziness.

F) Chest trauma in the recent past.

Most common causes of chest pain in children are NON-CARDIAC:

- Pleuritis, Trauma, Costochondritis.

CARDIAC causes of chest pain are:

- Severe AS (usually increases with activity)

- Pulmonary Vascular Obstructive Disease

- Mitral Valve Prolapse (usually with palpitations)

- Pericarditis.

- Kawasaki’s Disease (due to coronary involvement)

- Severe PS.

5) H/o Palpitations: Most common with MVP, SVT, Long QT-

Syndromes.

6) H/o Cyanotic Spells:

Classical: TOF with infundibular spasm.

Ask about –

A) Time of occurrence – common in early morning/ on awakening / post feeds.

B) Duration and Frequency of the spells – for prognosis and early intervention.

C) H/o squatting episodes /knee-chest positions by self.

Breathing rapidly/ no breathing during the spell – to differentiate from Breath

holding spells.

7) H/o Syncope: S/o arrhythmias, MVP, Long QT-syndrome and if

related to exercise- s/o severe AS.

8) H/o Cerebral events viz. Convulsions/Transient Ischemic Attacks/ Strokes:

- Emboli may occur with right to left shunts, Polycythemia and may lead

to cerebral thrombosis and brain abcess.

9) H/o any medications being taken by the child :

Ask about –

Name of the drug, dosage,timing and compliance.

Past admissions to the hospital for cardiac failure /surgery.

10) H/o signs and symptoms of Infective endocarditis viz.

prolonged fever, rash, hematuria, splinter hemorrhages,etc.

FAMILY HISTORY:

1) H/o Congenital Heart Disease in parents/siblings (risk of recurrence).

50

2) H/o sudden/unexplained death at young age in the family (Long

QT-Syndrome/Cardiomyopathy).

ASSOCIATED SOCIAL HISTORY:

1) Impact of disease on the child : growth, development, academic

performance, sports restrictions, peer attitudes, teacher’s attitude,

amount of school missed .

2) Impact of disease on the parents : financial condition, burden, aid

received from Govt. /NGOs, plans for future pregnancy, genetic

counseling, awareness of risks of recurrence and availability of Fetal

echocardiography.

3) Coping with disease: Parent’s understanding of the disease,

Prognosis, treatment options, antibiotic prophylaxis and signs of

Infective Endocarditis.

4) Immunization status: Especially Measles, Hepatitis-B, Tetanus .

EXAMINATION

Inspection: Look at the WHOLE CHILD.

Estimate the age and growth /general health of the child.

Face:

- R/o dysmorphism: Down’s / Turner’s / Noonhan’s / Marfan’s /William’s /

Cri-du-chat Syndromes .

- Central cyanosis: Best noted in the tongue / perioral area .

- Dental caries: As a risk of infective endocarditis.

- Conjunctival Injection: Seen with e/o increased hematocrit / polycythemia

in Cyanotic Congenital Heart Disease.

Hands / Feet:

- Cyanosis in the nails.

- Clubbing (mention the grade) s/o chronic cyanosis.

- Splinter hemorrhages and Osler’s nodes in Infective endocarditis.

- Feel over the elbows in an hypertensive child to detect tuberous/tendon

Xanthomata to r/o hypercholesterolemia .

Chest:

- Operation Scars.

- Asymmetry of chest: Precordial bulge / chronic cardiomegaly.

- Harrison’s Sulcus: May occur with increased PBF conditions.

Palpation:

Arterial Pulse:

- Check for both radials, brachials and femorals for volume and rhythm.

Look for Radio-Femoral delay (in a c/o CoA).

- If radial pulse not felt: r/o Holt-Oram Syndrome, TAR syndrome.

- If pulses are unequal: r/o ipsilateral BT-shunt, CoA involving the Left

Subclavian Artery.

51

Always measure the Blood Pressure in every case with an appropriate cuff size

(covering at least 2/3rd of the upper arm).

Measure in the right arm and note whether in sitting/sleeping/standing position.

Mean Systolic - 90 + age in years.

Mean Diastolic - 55 + age in years.

Rate: Never guess the rate. Count for 1 full minute.

Normal Range: AGE RATE

0-2 yrs 80-140/min.

2-6 yrs 75-120/min.

> 6 yrs 70-110/min.

If e/o Bradycardia – r/o Drugs (Beta-blockers/Digoxin), Complete Heart

Block, Sinus bradycardia in atheletes.

If e/o Tachycardia – R/o CCF, Tachyarrhythmias or an anxious child.

Rhythm: Regular or Irregular?

- Sinus arrhythmias occurring with respiration is universal in young children.

- If irregularly irregular – r/o Atrial Fibrillations – seen in cases of ASD,

post-atrial surgery, Ebstein’s Anomaly, Mitral Stenosis.

Volume of the pulse:

a) Large volume and rapid collapse: “Water-hammer pulse”

R/o PDA, Aortic Regurgitation.

b) Small volume:

R/o cardiac failure, shock,outflow obstruction viz .Aortic Stenosis,

Pericardial effusion.

c) Normal volume but jerky pulse : Hypertrophic Obstructive

Cardiomyopathy.

ALWAYS feel for the presence of a THRILL in the suprasternal notch to r/o AS.

Measure JVP only in older children which could be elevated in c/o Right heart failure,

Cardiac Tamponade and fluid overload.

Palpation of the Chest:

Apex Beat:

The furthest lateral and inferior position of the cardiac impulse.

- Usually in the 4th intercostal space, in the mid-clavicular line.

- If displaced to the left: r/o cardiomegaly, scoliosis and pectus excavatum..

- If displaced to the right: r/o true dextrocardia /dextro-position of the heart

due to Pulmonary Fibrosis, diaphragmatic hernia.

- Feel for the liver to r/o Situs Inversus / Kartegener’s Syndrome and

hepatomegaly.

Quality:

Well Sustained- Aortic Stenosis.

Forceful- LVH

With systolic thrill at upper left sternal edge- Pulmonary Stenosis.

With Systolic thrill at left lower sternal edge-VSD.

Parasternal Heave-RVH.

52

Thrills:

Localize the site.The murmur is atleast grade IV/VI in intensity.

Palpable 2nd heart sound: s/o Pulmonary Hypertension.

Auscultation:

Check all the 4 areas- Mitral, Tricuspid, Pulmonary and Aortic areas.

Check first and second heart sound.

R/o added sounds like mumur- if present- is it in systole or in diastole?

If e/o systolic murmur- always listen over the carotids to r/o AS.

Auscultate the back- innocent murmurs DO NOT radiate to the back.

Loud first heart sound:-ASD,MS.

Loud second heart sound:

Increased PBF – PDA, ASD, large VSD and PH.

Split second heart sound:

Universal in children and varies with respiration as Aortic closure precedes the Pulmonary

closure.

If fixed split (no change with respiration): ASD.

If widely split: ASD,RBBB and PS.

If single second heart sound: TOF/PS (due to inaudible pulmonary component).

Extra sounds:

3rd sound (early in diastole) – best heard over the apex with the bell, normal in healthy

children and at times with either ventricle failure.

4 th sound ( late diastole) – NEVER normal, r/o either ventricular failure / PH.

Opening snap (after the 2nd sound and high-pitched) - s/o MS.

Ejection click (after 1st sound and high pitched)- s/o AS/PS.

MURMURS:

Define the following:

- Intensity (grade 1 to 6).

- Where is it loudest?

- Where does it radiate?

- Timing (systolic/diastolic/both)?

- Duration (early systolic/pansystolic)?

- Pitch and quality (blowing/high/low)?

- Does it change with respiration/posture?

Innocent murmurs are: Still’s murmur, Pulmonary Ejection systolic murmur

and Venous hum.

Common conditions with murmurs:

-VSD: PSM at the left sternal edge .If large : mid-diastolic mitral flow murmur.

- PS: ESM at the left 2nd intercostal space.

- ASD: ESM at the Pulmonary area, left 2nd IC space.

- MR: PSM at the apex and left axilla.

53

- PDA: Continuous murmur below the left clavicle and radiates to the back.

- CoA: Continuous murmur at left sternal edge and b/w the scapulae.

-

Investigations:

Arterial Blood Gas/ Pulse oximetry - note the oxygen saturation (cyanotic congenital

heart disease.)

Hyperoxia test will help in distinguishing cardiac Vs Respiratory cause of Cyanosis.

Chest X-Ray - for size, position and shape of heart , pulmonary vasculature

( Increased /Decreased / normal ). Also note the situs , arch laterality , vertebral and

rib anomalies ( syndromic association )

ECG- axis, rate, rhythm, P-wave, QRS-complex, LVH/RVH hypertrophy.

2D-Echocardiography/ colour Doppler – Last of all investigations to confirm diagnosis ,

know accurate measurements and Doppler estimations for estimating gradients and

note the presence or absence of pulmonary hypertension .

Invasive: Cardiac Catheterization – Rarely used for diagnosis . reserved for those with

poor transthoracic echocardiographic window , essentially to measure pressure

gradients prior to surgery.

Treatment:

Management of heart failure : Diuretics, High calorie feeds with nasogastric tube to

reduce the work of feeding, Digoxin, ACE-inhibitors, Oxygen, IV inotropes and

Ventilation SOS and early referral for surgery if e/o complications or no response to

conservative therapy.

Management of Cyanotic Spells: Knee-chest position, Oxygen, Sodium bicarbonate ,

Morphine , beta-blockers, and palliative surgery.

Management of cyanotic neonate: Prostaglandin infusion, prevent closure of PDA, treat

acidosis, sepsis, hypoxia, hypoglycemia and hypothermia.

IE prophylaxis- Erythromycin/Ampicillin/ Gentamycin.

54

Flow Chart of acyanotic congenital heart defects

ACYANOTIC DEFECTS

Increased PBF Normal PBF

LVH/CVH RVH LVH RVH

VSD ASD AS/AR PSPDA PAPVR COA COA(infants)ECD PVOD (secondary Primary MS

L- R shunts ) myocardial EFE

MR.

Flow diagram of cyanotic congenital heart diseases

CYANOTIC DEFECTS

Increased PBF Decreased PBF

LVH/CVH RVH CVH LVH RVH

Persistent TGA TGA+PS Tricuspid atresia TOF Truncous TAPVR Truncous + PA+ hypoplastic PVOD Arteriosus HLHS hypoplastic PA RV Ebstein's Single ventricle Single Ventricle+ anomalyTGA+VSD Pulmonary Stenosis

55

Rheumatic Fever and Valvular heart diseases

Four types of clinical scenarios usually present :

1. Acute rheumatic fever

2. Relapse of acute rheumatic fever with chronic valvular heart disease.

3. Isolated Rheumatic valvular disease with H/o infective endocarditis

4. Combined chronic valvular disease

Acute rheumatic fever- Delayed , often recurrent , probably autoimmune reaction to

Group A beta- hemolytic streptococcoal pharyngitis involving joints , skin , brain and

endocardium and heart valves .

History :

H/o streptococcal pharyngitis –Fever , sorethroat - in the recent past (2-3 weeks back)

H/o pallor, epistaxis , abdominal pain .

H/o Joint pain, swelling, duration, joints involved,characteristics of pain and relief with

medications (arthritis).

H/o dyspnoea,palpitations easy fatigability ,exercise intolerance, chest pain, syncope

( s/o Carditis)

H/o skin rash, or nodes ( erythema marginatum , sub cutaneous nodes)

H/o neurological symptoms- purposeless movements, emotional lability, ( Chorea)

H/o complications ( PND, orthopnoea, hemoptysis, palpitations, syncope , edema ).

S/o infective endocarditis (fever with chills,petechie, subcutaneous painful nodes ,

hemoptysis,hematuria ,skin lesions)

H/o medications taken for fever and other symptoms .

H/o previous similar such episodes,

If RHD – h/o penidura injection – compliance & frequency .

Family history of rheumatic fever / rheumatic heart disease.

Immunization, dietary , development & socioeconomic status enquired .

Examination :

General –Vitals, Growth parameters, Scars, Chest asymmetry , icterus, teeth- caries ,

lymph nodes. Skin - erythematous rash & subcutaneous nodes over extensor surface of

head , back & limbs.Nails - pallor, clubbing, cyanosis. Joints - pain, swelling, tenderness

& restriction of movements.

Cardiovascular examination –

Peripheral - Venous, major arterial pulses & Blood pressure (upper & lower limbs).

Precordium –

Inspection – Scars, symmetry, apical pulsation

Palpation – Apex position, point of maximal impulse (PMI), heaves, (parasternal,

substernal, apical)

- Thrills (Suprasternal, supraclavicular and over precordium)

- Palpable S2- (pulmonary hypertension)

Auscultation- (use diaphragm initially, then the bell)

Areas- Apex, parasternal border,pulmonary , aortic areas ( roll patient to left

to accentuate mitral murmurs).

56

Heart sounds – intensity, splitting . Added sounds & Murmurs- systolic/ iastolic/

continuous – define intensity, character, grade , radiation of murmurs & Variation of

murmurs on sitting , inspiration and expiration.

Other Systems- Abdomen – Liver – measure span, note pulsation and tenderness

Spleen – infective endocarditis

CNS - Fundus and other signs of infective endocarditis.

- Choreiform movements

Diagnosis - c/o Acute rheumatic fever /RHD with -------------murmur , grade------, in

sinus rhythm with/ without CHF, with/ without signs of IE, with / without PH , with/ without

rheumatic activity at present with most probable heart involvement being --------

Investigations:

Sleeping pulse rate ( tachycardia - myocarditis/ CHF)

Complete blood count with ESR and CRP (Lab. Criteria)

Throat culture, ASLO – (second antibody titre/ rising titres if initial is normal)

Blood culture (if IE is suspected)

X ray chest for cardiomegaly, pericardial effusion and pulmonary oedema

ECG - PR interval and chamber enlargement

2 D Echo /CD– Status of cardiac –myocardial, valvular & pericardial involvement.

Differential Diagnosis for rheumatic fever- Arthritis - Juvenile Rheumatoid arthritis ,

Collagen vascular diseases, virus associated arthritis, Hematological disorders causing

arthritis.

Commonly asked questions:

Jones criteria- original, modified, update and limitations of Jones criteria.

Conditions causing similar cardiac lesions:

MR- RHD, Collagen vascular disorders, MVP, congenital MR, Marfan's, IE, MPS,

Functional MR, CHF, Ehler- Danlos.

AR- RHD, Connective tissue disorders.

MS – RHD , MVP & Congenital MS.

Differentiation between rheumatic arthritis and rheumatoid arthritis .

Nonspecific criteria for rheumatic fever (abdominal Pain, anorexia, wt. loss, epistaxis,

pallor, chest pain,pneumonia , tachycardia)

Causes of diastolic murmur - Carey comb’s (active carditis) ,Flow murmur-severe MR ,

Mid diastolic murmur of MS and AR murmur.

Differentiation between ARF and RHD.Signs of rheumatic activity .

Prognosis and sequelae of carditis, arthritis and chorea.

Causes of chorea and description of rheumatic chorea.

Surgical indications in various Rheumatic valvular heart disease.

Peripheral signs of Infective endocarditis and Aortic regurgitation.

Drugs for primary and secondary prevention of rheumatic fever if patient is allergic to

Penicillin.

Other tests to prove streptococcal infection.

57

CRITERIA

Carditis-Major criteriaValvulitis – Endocarditis

Myocarditis

Pericarditis 2D-ECHO/CD (minor)

Arthritis –Major criteria

Chorea (major criteria)

FIRST ATTACK

Apical systolic murmur – MRDiastolic murmur- Cary - Coomb’s ) Occasionally ARUnexpected cardiomegaly / CHF/ TachycardiaPericardial rub Silent or significant MR/AR in absence of murmur with arthritis migratory polyarthritis (Self limiting pain+ swelling) Late manifestation

RECURRENCES

Change in murmur, new murmur

Worsening cardiomegaly / worsening CHF

Arthralgia (only pain)

Erythema Marginatum-major criteriaSubcutaneous nodules – major criteria

Minor Criteria -----------------------------

Supportive criteria

Secondary major manifestations Isolated skin manifestations in the absence of carditis or arthritis –insignificant

Fever – low grade 100- 102°Arthralgia (in absence of arthritis)Increased ESRIncreased -PR interval or QT – no correlation with murmur, prognosis or residual heart disease Increased CRP- Normal in anaemia, CHF

Increased ASLO titre may be normal in chorea and in the early phase of disease & in chronic Carditis.

Jones Criteria & Interpretation Limitations – Mild attack may not meet the criteria.

- Minor criteria are weak criteria for diagnosis.

- Other clinical conditions may meet the criteria ( Rheumatoid arthritis )

i.e. overlap of symptoms and signs between autoimmune diseases & ARF

- Medications like aspirin may suppress full clinical manifestions and alter

laboratory data.

- Arthralgia and increased PR interval cannot be taken as minor criteria

when arthritis and carditis are major criteria respectively.

58

Mitral stenosis

Pathology

Symptoms

Grade I- Asymptomatic – with no s/o MS

Grade II Dyspnoea on exertion with s/o MS

Grade III Dyspnoea at rest /intractableCHF

Signs Mild MS

Loudness of S1 Distance between S2 and O.S Length of diastolic murmur Mid diastolic Mid diastolic with pre systolic accentuation Pan diastolic Loud P2 Severe MS DD:

1) Congenital MS

2) Left atrial myxoma

3) Cortriatriatum

ECG- 1) P mitrale in lead II – broad

bifid P wave in II and AVF .

In V1 – P wave will negative

terminal portion

2) RVH

X ray – Left atrial enlargement –

straightening of left heart

border

- Increased pulmonary artery size

- Rt ventricular enlargement

Thickened mitral cusps , fusion of valve commuissures ,

shortening and fusion Chordae.

Dyspnoea , orthopnoea, PND ( due to interstitial pulmonary

edema , decreased compliance , of the lungs , increased left

atrial pressure ( LAP) & Acute pulmonary edema –causes

sudden tachycardia & tachypnoea.

Hemoptysis – due to ruptured bronchial vessels (LAP)

CHF- right sided due to increased LAP

pulmonary venous pressure PAH

right ventricular decompensation TR

Palpation

Small peripheral pulse -, PMI in mid clavicular line ,

Right ventricular heave suggest PH, apical diastolic thrill

Auscultation

Loud S1, - due to abrupt closure of mitral cusps

Opening snap due to sudden tensing of the funnel shaped

mitral valve in diastole ( S2 – OS indicates severity of MS

Rumbling , low pitched apical diastolic murmur due to turbulent

blood flow through stenosed Mitral valve . Presystolic

accentuation best heard with bell of stethoscope in left lateral

position between apex and left lateral border.Loud pulmonic

component of S2 – PH. Pan systolic murmur of tricuspid

incompetence in severe PH

Extra cardiac findings :

Distended neck vessels, hepatomegaly and peripheral edema.

Treatment :

Medical –1)Treatment of CHF 2) Penicillin & Infective

endocarditis prophylaxis

Surgical : Mitral valvotomy-Indications

- Symptomatic MS

- M.S with pan diastolic murmur

- M.S with PH

- EF slope on M mode < 50 mm

Pathology

Pathophysiology

Symptoms &Signs

Severity Mild

Systolic thrill + Murmur intensity + S3 + Diastolic rumble + Severe PH Differential diagnosis :

Abn. Coaptation of the mitral leaflets creating regurgitant orifice during systole.

Systolic gradient between LV and LA is the diving force of the regurgitant flow.

Four hemodynamic consequences- 1) volume overload on LA and LV 2)

Left atrial hypertension 3) Reduction in LV forward stroke volume and cardiac

output 4) Progressive reduction of left ventricular function.

Easy fatiguibility 2) Palpitations 3) Effort dyspnoea4) Congestive heart failure.

BP - Normal / wide pulse pressure/ regular pulse - ankle edema if CHF.

Palpation – laterally displaced diffuse thrusting apex beat ( enlarged LV )

2) Apical systolic thrill 3) Left parasternal heave - late systolic left atrial lift.

Auscultation - 1) S1 normal in intensity or soft often merged within pansystolic

regurgitant murmur.2)S2 normal and split 3) S3 produced due to rapid

ventricular filling 4 ) Hallmark of MR is holosystolic murmur blowing in

character and radiating to axilla 5) Diastolic rumble due to increased blood flow

across the mitral valve 6) If PH – loud S2.

Treatment :

59

1. Ostium primum with

cleft of mitral valve

2.Mitral valve prolapse

3.Dilated cardiomyopathy

4. Myocardial disease

seen in -

GSD, endocardial

fibroelastosis.

5.Systemic diseases –

Marfan’s syndrome

6.Infective

endocarditis

7.Acute rheumatic

carditis

ECG

LAE

LVH

X ray

Cardiomegaly

Medical : CHF

: Infective endocarditis prophylaxis

: Rheumatic fever prophylaxis

Surgical Indications: symptomatic patients- (DOE, pulmonary edema),atrial

fibrillation , thromboembolic phenomenon &

hemoptysis

Mitral valve repair – closed – balloon / Closed mitral

Commusirotomy-CMC ( for pliable valves) and Open

for calcified Valves and adults .

Mitral valve replacement –for calcified valves with MR

with Biological/ bioprosthetic - Homograft – Human cadaveric/

Heterograft – procine / bovine valve.

(Advantage: Do not req. anticoagulation , but tend to deteriorate

rapidly in the young)

Mechanical – Prosthetic valves (Adv- Longer

durability but require long term anticoagulation and have risks of bleeding,

thrombus formation & mechanical dysfunction.

Mitral Incompetence

60

Pathology

Pathophysiology

Signs :

Collapsing pulse

De mussat’s sign–

nodding of head with

each pulsation

Corrigan’s sign–

prominent carotid

pulsations in the neck

Locomotor brachialis

prominent radial artery

in the arm

Quincke’s sign – visible

capillary pulsation in nail

bed

Durozie’s sign –

femoral artery if

compressed , proximally

– a diastolic murmur is

heard due to diastolic

retrograde flow

Pulsatile retinal

vessels

ECG- LVH

X ray – Cardiomegaly

Differentiate

MS murmur Austin flint O.S + -Loud S1 + -S3 - +LV dilation - +

RV dilation + --

Postinflammatory scarring of aortic cusps

Regurgitant flow cause volume overload of left ventricle left ventricular

dilatation and hypertrophy which permits most patients to remain symptom

free .As lesions progresses decompensation occurs and patient becomes

symptomatic.

1) Palpitation on exercise or at rest – due to left ventricular enlargement

2) Effort dyspnoea

3) Chest pain / angina due to poor coronary perfusion

4) CHF

Large volume Pulse – water hammer pulse – due to combination of large

forceful left ventricular ejection volume in early systole followed by regurgitant

flow in early diastole.

BP- wide pulse pressure

Inspection – precordial fullness , apex displaced to left and down

Palpation – area of PMI- midclavicular line suggestive of LVH

Auscultation – 1) S1, S2 are normal 2) Diastolic murmur – best heard with

patient sitting and bending forward. Heard well in expiration over mid sternal

area or lower left sternal border.- High pitched blowing in character

(listen for absence of silence in early diastole)

3) mid diastolic mitral murmur ( Austin Flint)

Differential diagnosis :

1) PDA 2) VSD with AR 3) Reduced peripheral resistance – AV fistulae ,

anaemia , hyperthyroidism (only peripheral signs but no murmur)

Treatment :

Severity of AR-Mild /Moderate /Severe/Very severe

Symptoms-No/No/Nil or present/Severe

LV functions –Normal/Normal/Depressed/Severely Depressed

Management-Nil/ Vasodilator therapy/Valve replacement/

Medical therapy followed by surgical therapy.

Aortic incompetence

Combined Valvular lesions

The clinical presentation and natural history of combined lesions is determined by the

relative severity of each individual lesion and chronicity and order of develop.

The Common combined lesions are : MS with MR

: MS with AR

: MR with AR

61

Mitral stenosis with Mitral regurgitation

Clinical

Presenting

Symptoms

Clinical Signs

ECG

X ray

2 D Echo

Findings

Pulmonary findings

Easy Fatigability

Parasternal Lift

S1

Prominent apical impulse

Prolonged diastolic murmur

S3

LVH

RVH

Lt atrium

Lt ventricle

Mitral Leaflet thickening

Concentric left ventricular

hypertrophy

Hyperkinetic LV

Predominantly

MS

+

--

+

Loud

--

+

--

--

+

+

--

+

--

--

Balanced

lesion

+

+

+

+

+

+

--

+

+

+

+

+

+

+

Predominantly MR

--

+

Peaks at end systole

Soft

+

--

+

+

--

++

++

+

+

+

Aortic regurgitation with Mitral Stenosis

Presenting

Symptoms

Clinical

signs

ECG

Xray

2 D Echo

Clinical Findings

Anginal pain ( Chest

pain) / Palpitations

Effort tolerance

Pulmonary symptoms

Wide pulse pressure

Parasternal lift

Prominent apical impulse

Loud S1

S3 or S4

Effect of squatting/ hand

grip on diastolic murmur

RVH

LVH

LV Dilatation

RV dilatation

Left ventricular hypertrophy &

Hyperkinetic LV

Predominant

AR

+

+

--

+

--

+

__

+

Increased

--

+

+

--

+

Balanced

Lesion

+

+

+

+

+

+

+

+

Increased or

decreased

+

+

+

+

+

Predominantly

MS

--

+

+

--

+

--

+

--

Decreased

+

--

--

+

--

62

Aortic Regurgitation with Mitral Regurgitation

Presenting

symptoms

Signs

ECG

X ray

Echo

Clinical findings

Angina( chest pain)

Easy Fatigability

Pulmonary symptoms

Wide pulse pressure

Parasternal lift

Diastolic murmur

Systolic murmur

S4

LVH

LAD

LV dilatation

LA dilatation

LV hypertrophy and

hyperkinesis

Predominant AR

+

+

--

+

--

+

+

+

+

--

+

+

+

Balanced Lesion

+

+

--

+

+

+

+

--

+

+

+

+

+

Predominant MR

+

+

+

-

+

--

+

_

+

+

+

+

+

Treatment

1. Bed rest & Treatment of CHF- duration of bed rest depends on type and severity of

manifestations – ESR & Sleeping pulse rate could be a guide.

1) Treatment of IE and prophylaxis for IE.

2) Nutritional- High calorie, salt restricted diet & fluid restriction.

3) Elimination of streptococci - penicillin prophylaxis

5) Anti-inflammatory agents – Aspirin, steroids

Aspirin 100mg/kg/day tapered to 75 mg/kg/day for 4-8 weeks

Steroids 2 mg/ kg/ day in three divided doses tapered to 1.5mg/ kg/day

after 2-6 weeks depending on severity of carditis.

Pan carditis

Carditis + CHF

Carditis + Cardiomegaly

Definite steroid Zone

2mg/kg/day TDS -for4-6Wks

Carditis + murmur – only

tachycardia without cardiomegaly

Intermediate Zone either /or

Arthritis

Definite Aspirin Zone

100 mg/kg/day QDS 4- 6 weeks

Prophylaxis – Primary – prevention of streptococcal pharyngitis – 10 day

Secondary prevention - 0.6 megaunits - 1.2 megaunits of benzathine

penicillin every third week (Alternative -oral penicillin 250 mg bd ,

sulphadiazine 1 gm OD, or erythromycin 250 mg bd )

Tertiary – To prevent CHF in a child with known RHD, timely surgery if

required to prevent further complication of disease process.

63

Infective endocarditis : Any heart condition with abnormal blood flow from high pressure

area to low pressure area.require infective endocarditis prophylaxis eg . LV LA- mitral

regurgitation (MVP) , LV Aorta- ( Aortic stenosis ) , LV RV- ( VSD ) or

Aorta- PA ( PDA)

Classic Tetrad of clinical features-

Infection

Fever with rigors

Arthralgia

Splenomegaly

Anemia

Heart disease

Valvular/ shunt lesion

Clubbing

Murmur

S/o CHF

Embolism

Brain- stroke

Kidney – RBC in urine

Liver - icterus

Immunological –

Splinter haemorrhages

Petichae

Oslers nodes

Janeway lesions

Roth ‘s spots.

Indications of endocarditis prophylaxis

Minimum risk

ASD

MVP with our MR

Post VSD repair

Post PDA ligation

Moderate Risk

All CHD except Ostium Secundum ASD

All acquired Valvular heart diseases

MVP with MR. HOCM

Post palliative or corrective surgery

Standard prophylaxis

Single dose peniciilin or ampicillin

oral 60 min before surgery

IM- 30 min before surgery

IV at beginning of surgery

High Risk

Valve prosthesis, Homografts

Conduits ,Operated AS

After an episode of Infective

endocarditis

High risk Prophylaxis- IV

1 st dose- 30 min before surgery2

nd dose- 8 hrs after surgery

3rd dose –16 hours after surgery

64

PROTEIN ENERGY MALNUTRITION (PEM)

PEM is a symptom complex of diverse etiology and single etiopathogenesis.

The child presents with failure to gain in weight with or without short stature.

Presenting complaints

- Poor gain in weight / height

Associated complaints

- Vomiting, loose motion

- Cough, breathlessness, cyanosis

- Difficulty in feeding, suck-rest-suck cycle

- Polyuria, Polydypsia

- Recurrent infections

Birth History

- Age of expectant mother

- Maternal nutritional status

- Birth order, Birth weight

- Prematurity

- IUGR

- Perinatal complications

Dietary history

- Calorie intake / day

- Protein gms / day

- Accurate assessment is difficult and good rapport with mother

- Assessment is done by a 24 hr recall method or a food frequency table, diet

during illnesses

- Calculate calories and protein and calculate the calorie gap and protein gap as

compared to ICMR recommendation

Balanced Diet

- 50 – 55% of total cal intake from carbohydrate

- 10 – 15% of total cal from protein

- 25 – 30% from fats

H/O Breastfeeding ( to be taken in detail in infants )

- Time of initiation, duration, adequacy of breast milk.

- Breastfeeding to be continued till two years of life.

- Breast milk is more advantageous as it is physiological, convenient,

economical, with optimum fluidity and warmth, besides being bio-chemically

superior, microbiologically sterile, immunologically safe, with psychological

benefits of ensuring mother-infant bonding.

- Epidemiologically breastfeeding decreases morbidity and mortality.

65

H/O Artificial / Top feeding

- Considered when either the mother is unavailable, critically ill or no more.

- Formula feeding / cow’s milk

-Dilution , bottle feeding. Over dilution and infection due to contamination are

common causes of malnutrition

H/O Weaning.

Weaning (meaning “to accustom to” ) / Complimentary feeding is started

between 4 – 6 months of age. Breastfeeding must be continued during weaning.

Preparation and storage of weaning foods should be done under hygienic

conditions.

To prevent malnutrition the “Three plank protein bridge” by Jelliffe to prevent

PEM

- Continue breastfeeding

- Introduce Veg proteins

- Introduce animal proteins

Besides supplementary feeding, group eating and small frequent feeds.

SOCIO-ECONOMIC HISTORY

- Education of parents, occupation

- Monthly income, Housing, Sanitary facility

- Family size

- Toilet habits

- Safe drinking water

- Availability of electricity, recreation facility

- Kuppuswami scale – class I to V

- Closely spaced families,

- Working mother.

Psychosocial history

Cultural practices

On Examination –

Anthropometry

1. Weight – Beam balance, electronic scale - simplest, most widely used, most

reliable.

2. Height – Infantometer, stadiometer

3. US : LS ratio

4. MAC – between 1 –5 yrs of age, done on left arm midway between acromion &

olecranon. (<12.5 cms – severe PEM, 12.5 –13.5 – moderate PEM, >13.5

normal ) Not a good parameter for growth monitoring during 1 – 5 yrs of age.

5. Head circumference – maximum occipito frontal circumference

6. Chest circumference

7. Skin fold thickness

66

8. Somatic quotient – average of Wt, Ht head circumference, MAC expressed as

% age of expected

Age independent anthropometric indicators

1. The Bangle test – inner diameter of bangle of 4 cms crosses above elbow

2. The Shakir’s tape – green (13.5 cms), yellow ( 13.5 – 12.5 cms), red ( <

12.5 cms)

3. The Quac stick – Quacker’s arm circumference stick

4. Modified Quac stick

5. The Nabarrow’s thinness chart

6. The head circumference to chest circumference ratio ( > 1 – normal)

7. MAC to height ratio ( < 0.29 severe PEM , 0.32 to 0.33 – normal )

8. MAC to head circumference ratio – 0.28 – 0.31 – mild PEM

- 0.25 – 0.279– moderate PEM

- < 0.249 - severe PEM

9. Ponderal index ( Wt / Ht3 ) > 2.5 - normal

2.0 – 2.5 - borderline PEM

< 2.0 - sever PEM

10.Dughdale’s ratio ( Wt / Ht1.6 ) > 0.79 - normal

< 0.79 - malnutrition

11.Quatelet index ( Wt kg / Ht2 cm) X 100 > 0.15 - normal

12.BMI (Wt kg / Ht2 m)

13.Mid arm muscle circumference - MAC – ( 3.14 X SFT) cm

Classification of PEM

(I) IAP classification (1972)

N - > 80 % (Wt for age – expected)

I - 71 – 80

II - 61 – 70

III - 51 – 60

IV - < 50 %

(II) Welcome Trust classification ( Boston Standard)

Wt for age ( % of Exp.) Oedema Type of PEM

60 - 80 + Kwashiorkor

60 - 80 - Under weight

< 60 - Marasmus

< 60 +Marasmic

Kwashiorkor

(III) Gomez classification

Normal - > 90 %

1st deg PEM - 75 – 90

2nd deg PEM - 60 – 75

3rd deg PEM - < 60 %

67

(IV) Classification as per height for Age and Weight for age

Ht for age - Waterloo’s classification

Wt for age McLarein’s classification

Ht for age Waterloo’s McLarein’s

Normal > 95 > 93

1st deg Stunting 90 - 95 80 - 93

2nd deg Stunting 85 - 90 -

3rd deg Stunting < 85 < 80

Wt for age Waterloo’s McLarein’s

Normal > 90 > 90

1st deg Wasting 80 - 90 85 - 90

2nd deg Wasting 70 - 80 75 - 85

3rd deg Wasting < 70 < 75

(V) WHO classification

Ht for age Wt for age HA & WH

> - 2 SD Normal Normal Normal

< - 2 SD Stunted Wasted Stunted & Wasted

Spectrum of PEM

- Kwashiorkor / Marasmus / Marasmic Kwashiorkor / Pre-Kwashiorkor/

- Nutritional dwarfing / Underweight /Invisible PEM

Clinical Signs

- Growth retardation

- Hair changes – Lack luster, thin , sparse ,Flag sign

- Hypochromotricia , Easily pluckable

- Skin changes-Hypo-pigmented, Hyper-pigmented, erythematous, jet black

- “Flaky paint dermatosis” , “Crazy pavement dermatosis”

Xerosis, hyperkeratosis

- Eye Signs.- Pallor, xerosis, bitot's spot ,angular palpebreitis.

- Mucosal changes- Glossitis, Stomatitis, chelosis

- Glands. -Parotid, thyroid gland enlargement

- Hepatomegaly

- Purpura or Bleeding

- Oedema – mooning of face

- Mental changes – Irritability, apathy

- Tremors – appear during treatment

Investigations

- Hb, CBC, Platlet count, Priferal serum, RBS, BUN, S electrolytes, S protein,

Alb, CXR, MT, Urine – R & CS, LFT, RFT, CSF

Management …4 STEPS

- Resuscitation, Hospital care

68

- Restoration,

- Rehabilitation

- Prevention care

Resuscitation..

Treat medical emergencies

What emergencies? Hypothermia, hypoglycemia, electrolyte disturbance,

sepsis , shock, dehydration, cardiac failure, Anemia

Restoration.

Achieve weight for height - How?

150-200Cal/actual weight , 3-4gm protein/actual weight , 150-165 ml fluid/ actual

weight and Multivitamins and minerals

Given as 2hrly feeds with a feed late night and early morning -Oral or gavage feeds

What type of feed?

Breast feeds, High energy milk

Isodense formulas ,Hyderabad mix, amylase rich food, Cereal pulse mix

Rehabilitation

Allow RDA as per ICMR recommendations

Supplementary through various national nutrition programmes…ICDS

Growth monitoring

Developmental stimulation

Prevention

Prevent LBW babies….Antenatal care & Care of adolescent girls

NIMFES .. Nutrition, Immunization, Medical care, Family planning, Education, Stimulation

NUTRITIONAL RECOVERY SYNDROMES

Gynecomastia, Parotid swelling, Hypertrichosis, Hepatomegaly, Ascites, Spleenomegaly,

Eosinophilia, "Kwashi shake" All are self limited but keep the baby under observation.

Commonly asked questions

Complications of PEM / Poor prognostic signs

National programmes in nutrition

Classifications of PEM

Nutritional recovery syndromes

Difference between marasmus / Kwashiorkor

Diet chart for PEM

69

APPROACH TO A CHILD WITH RICKETS

Presenting symptoms…

Progressive bony deformity

Bone pains, Fractures

Seizures in young infants, Carpopedal spasm in older children

Delayed dentition, dental deformities

Proximal muscle weakness

Delayed motor development

Associated symptoms…(etiology)

Polyuria, polydypsia (Renal rickets, RTA)

Recurrent diarrhoea , steatorrhoea ( Malabsorption..fat)

Jaundice, distension abdomen (Chronic liver disease, Cholestatic

jaundice)

Pallor (Nutritional, Wilson’s disease, Chronic renal failure)

Visual problems (Lowe’s syndrome, Cystinosis)

Alopecia - Patchy, totalis (Vit. D Dependent Rickets Type II)

Hearing affection ( RTA)

Recurrent respiratory infection

Mental retardation

Drugs ingestion- Anticonvulsants,anti tubercular drugs

Antenatal history…

Calcium supplement in expectant mother

Consanguinity (Autosomal recessive disorder)

Preterm /Full term (Osteopenia of prematurity)

IUGR (may manifest with rickets during catch up growth)

Dietary history…

Breast feed/ top fed

Vit D or Calcium supplement

Weaning

Balanced diet

Exposure to sunlight

Family history of similar complaints (X linked hypophosphatemic rickets)

Examination

Anthropometry - Short stature, Disproportionate short stature

Bony features of rickets - Craniotabes (young infants), wide open / persistent open

anterior fontanelle, fronto parietal bossing giving a hot cross bun appearance, rachitic

rosary ,Harrison sulcus, pectus excavatum, widening of wrists, double malleolus, Bowing

of long bones, genuvarus / genu valgus; coxa vera/ coxa valga deformity.

Dental feature: -

Delayed eruption of teeth, dental abcess, pulp defects, dental problem usually affect the

secondary detention.

Muscle and ligament: -

70

Proximal muscle weakness causing waddling gait, difficulty in climbing stairs, difficulty in

getting up squatting position. Visceroptosis, laxity of ligaments.

Associated problems: -

Pallor, Icterus, other vitamin deficiencies, hypertension, alopecia, hepatosplenomegaly,

cataracts, glaucoma, sensorineural hearing loss.

Investigations:-

1. S.Calcium, S.Phosphorous , Alkaline Phosphatase

2. S. Parathyroid hormone level

3. S. 25 hydroxy vitamin D level,

4. S. 1, 25- di hydoroxy vitamin D level

Radiological features

Characteristically seen at the epiphyseal ends of long bones. Cupping and fraying ,

delayed appearance of epiphyseal centers, cortical thinning, bowing of long bones and

fractures are some of the features

Investigations for secondary causes:-

RTA….Arterial Blood gas --for HCO3 levels with simultaneous Urine pH, S. Electrolytes. Hypophosphatemic Rickets….TmP GFR

Malabsorption….Qualitative and quantitative fat estimation in stool.

Renal failure…S. Creatinine, Blood Urea , Urine Specific gravity.

Hepatic…. Liver function tests, S. Ceruloplasmin

Biochemical abnormalities in various etiologies :-

Type Ca P Hco3 Calcidiol Calcitriol PTH

Vit D def. L V N L V H

Calcidiol def. L L N N L H

VDDR II L L N N H H

Fanconi N L L N L N/H

XLH rickets N L N L N N/H

Oncogenous N L N N L N

MCAS N L N N N

Preterm N L N N H/N N/L

Distal RTA N N L N

Uremia V H L L/N L H

L- Low, N-Normal, V –Variable, H-High ; Def. – deficiency; VDDR – Vitamin D Dependent Rickets;

XLH –X linked Hypophosphatemic ; MCAS-McCune Albright Syndrome; RTA-renal Tubular

Acidosis

71

Therapy-

Nutritional rickets :

A consensus regarding the ideal protocol of treatment is lacking. VitD3 (cholecalciferol) is

the preparation of choice in a daily dose of 1600-2000 untis/day. A large single dose of

6lac units ensures compliance but has the risks of causing hypercalciuria and

nephrocalcinosis. It is a must to supplement calcium in a dose of 800mg/day in children

and 1200mg/day in adolescents.

Rickets due to other causes need specific therapy.

Calcitriol deficiency - Calcitriol 1-3micgm/day

Calcitriol resistance - 1.5-20micgm/day

Hypophosphatemic rickets -

Soluble phosphate..1000 – 1500 mg of phosphorous daily 4 or more doses.

Calcitriol 1-2 micgm/ day ( avoid hyperclacemia, hypercalciuria)

RTA .Bicarbonate supplementation

72

APPROACH TO A CASE WITH SHORT STATURE

Short Stature (SS) is one of the common presenting symptoms in any pediatric outpatient

clinics. Although everyone can observe a large amount of variability in the human

population, many parents and their children want to conform to an idealized standard

which has led to many referrals to pediatricians and pediatric endocrinologists.

Fortunately majority of these children do not have an underlying hormonal or genetic

disease.

A child may be regarded as having growth retardation if his/ her height is

Less than the 3rd percentile or 2SD below the mean for age of the population

reference standard.

Excessively short for the Mid-Parental Height (MPH) or Target height (TH) even if

the height recorded is within the normal population percentiles for age.

Demonstrates a growth velocity of less than 25th percentile on a velocity curve

when assessed over a minimum period of 12 months.

The control of the growth process is related to many complex interacting factors ,

including internal cues such as genotype, external factors such as nutrition and

environment ,and internal signaling systems such as hormones and growth factors. As

might be expected from the multiplicity of control mechanisms for growth , there are many

causes of short stature.

Normal growth velocity:

Intrauterine period is the most rapid growth period. In the first year of life a child grows by

25cm, 12.5 cm in 2nd year, 6-7cm in 3rd & 4th year, 5cm per year from 5-9 years with a

nadir of 3.5 cm per year pre pubertal. During pubertal growth spurt 10-30 cm height is

gained, with peak growth velocity of 9-11 cm per year in boys and 7-9 cm per year in

girls.Body proportions (upper segment: lower segment) change from 1.7 at birth to 0.98-1

by 13-14 years of age and to 1 in adult hood.

CAUSES OF SHORT STATURE

I. PHYSIOLOGICAL OR NORMAL VARIANTS

Familial short stature (FSS)

Constitutional delay of growth and puberty (CDGP)

II . PATHOLOGICAL CAUSES

A. . DISPROPORTIONATE SS …

Rickets, Skeletal Dysplasia , Congenital hypothyroidism.

B.. PROPORTIONATE SS ….

Prenatal Causes.

IUGR ,

Dysmorphic syndromes—e.g. Russel Silver syndrome

Chromosomal disorders.—Down’s syndrome, Turner’s syndrome

Postnatal Causes

1. Systemic diseases …

Chronic anemia, Chronic renal failure, Chronic liver disease , Asthma

73

, Congenital heart disease

2. Chronic undernutrition

3. Endocrine causes

i. Growth hormone deficiency (GHD)

ii. Hypothyroidism .- congenital /Acquired

iii. Cushing’s syndrome

iv. Diabetes mellitus

v. Pseudohypoparathyroidism

4. Psychosocial dwarfism

Idiopathic

EVALUATION OF A CHILD WITH SHORT STATURE (SS)

The key to initial evaluation of SS is the history , determination of auxological parameters

and detailed clinical examination. Thus the approach to short stature must be a careful

balance designed not to miss pathology disorder without over evaluation.

Facts to be elicited in the history (Etiology)

Ante-natal History– Substance abuse, Medication, Infections (IUGR)

Birth History -- Birth weight /Gestation age ( IUGR)

H/O birth asphyxia ( Hypopituitrism),

Breech delivery, Neonatal hypoglycemia (GHD)

Prolonged neonatal hyperbilirubinemia (Hypothyroidism)

Developmental milestones . (Hypothyroidism ,chromosomal/genetic cause) Symptoms

pertaining to illness…

Shortness of breath, cyanosis, cough, fever, (Heart disease, asthma,TB)

Diarrhoea, Steatorrhoea, Abdominal pain (Malabsorption)

Head ache , vomiting, visual problems ( Pituitary – hypothalamic mass)

Constipation, lethargy, feeding difficulty (.Hypothyroidism)

Polyuria ,(.RTA, Chronic renal failure )

H/O Hepatitis, distension abdomen, malena (Chronic liver disease )

Recurrent blood transfusions ( Thalassemia and other chronic anemias)

Dietary history .. to elicit weaning practice, calorie and protein intake

Drug history .. prolonged use of corticosteroids, amphetamine derivatives.

Family history of SS in first /second degree relatives (FSS),

Delayed puberty in one or both parent (CDGP)

Social history .. child abuse, family discord, emotional deprivation

(Psychosocial dwarfism)

ANTHROPOMETRY ..

Measurement is the basis of growth assessment. Measurements made accurately and

precisely and interpreted correctly are more specific and more sensitive than analyses of

single hormone concentrations in children.The measurements must be made on

appropriately designed equipment and it is ideal to have the same person taking the

readings to eliminate interpersonal errors.

74

Parameters ..

1. Height (cms)

For children < 2yrs of age supine length (TL) should be measured on an

infantometer and two personnels are required to make an accurate measure.

For children >2yrs of age standing height is measured on stadiometer.

Plot the value on a reference curve.

Calculate the height age ( the chronological age at which this measurement of

height is on the 50th percentile of reference curve)

Correlate the height to MPH range in children more than 2 yrs of age.

Mid Parental Height (MPH) or Target Height (TH) range is calculated as in

Boys MPH range = {(Father’s height + (Mother’s height+13)) / 2}+/-8.5cm

Girls .MPH range= {((Father’s height –13) + Mother’s height ) / 2}+/-8.5cm

2. Body proportions …

US : LS ratio :: Vertex to pubis: Pubis to sole of foot.

(Normal .At birth-1.7:1, At 3yrs-1.4:1,At 5yrs-1.3:1,At 6yr 1.2:1,

At 8yrs-1:1, At10yrs-0.98:1)

Lower segment longer than the upper segment by more than 5cms

after completion of puberty is considered disproportionate.

Arm span : Total height . Arm span is usually within 5 cm of the height.

3. Weight, Head circumference ,Chest circumference are other parameters

which need to be measured

Clinical examination features and Etiology

Dysmorphisim , congenital malformation-Genetic syndromes

Midline defects, Single upper central incisor, Micropenis – GHD, Hypopituitarism

Signs of vitamin deficiencies – Malabsorption , Rickets

Jaundice , clubbing—Chronic liver disease

Pallor – Chronic anemia, Renal failure, Liver disease

Central obesity, striae, proximal weakness- Cushing’s syndrome

Hypertension – Chronic renal failure

Goitre, coarse & dry skin, delayed relaxation of tendon jerks –Hypothyroidism

Round face, short 4th metacarpal –Pseudohypoparathyroidism

Pubertal staging – delayed puberty

Webbed neck, wide spaced nipples, increased carrying angle in a short girl –

Turner’s syndrome

LABORATORY INVESTIGATIONS

Study of the growth chart

Bone age – Xray left hand wrist to tips of fingers (assessed by Atlas or Scoring

method)

Counting the number of carpal bones is an inaccurate method of calculation of

bone age and should not be attempted.

Screening tests

Hemogram – Hb, CBC, ESR , Periferal smear examination

S. creatinine, S. Calcium, S. Phosphorous, Alk PO4.75

SGPT, S. Proteins , RBS, Blood gas analysis, S. Electrolyte

Urine examination – routine & microscopic

Stool examination for ova & cysts

Karyotyping if suspected Turner’s syndrome .

Buccal smear is unreliable and should not be used to diagnose Turner’s syndrome.

Hormone studies ( if indicated)

Thyroid profile, Provocative tests for growth hormone assay

IGF1 , IGFBP3 …as screening test for GHD (if available)

Indications for hormone studies

Subnormal growth velocity

Markedly stunted height

Height below MPH range

Retarded bone age

Other causes of pathological SS ruled out.

Single basal GH level has no diagnostic value and should not be done.

MANAGEMENT :

Counselling ….Irrespective of the presence of underlying cause to SS.

Avoid negative comparisons between siblings/ cousins/peers.

Exercise should be encouraged.

Balanced diet with recommended daily allowances of vitamins and minerals

should be emphasized.

In some cases of CDGP who are psychologically disturbed due to delay in

puberty , a short low dose of testerone or estrogen may be given

GH therapy is not indicated clinically in the absence of GHD.

Limb lengthening surgeries in achondroplasia can be considered under an

orthpedic surgeon’s care.

SOME COMMON CAUSES OF SHORT STATURE

Familial Short Stature(FSS )

Commonest cause of SS

Short child of short parents

Ht <3rd percentile but within MPH range

Growth curve runs parallel to the 3rd percentile

US/LS normal for age

Bone Age (BA ) = Chronological Age (CA) > Height Age (HA)

Attains puberty at appropriate age

Adult stature below 3rd percentile

Constitution Delay in Growth & Puberty(CDGP)

Second common cause of SS

More frequent in boys than girls

Born with normal weight and length.

Growth falters around 2 yrs of age and Ht falls <3rd percentile for age

Follows a curve parallel to 3rd percentile through out childhood

US/LS normal to eunuchoid.

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HA = BA < CA

Onset of puberty and adolescent spurt is delayed

Family h/o delayed puberty in one of the parent may be present

Adult stature is normal.

Child referred for growth retardationHt.,US:LS, Wt, growth charting, mid-parental height.

History and examination

Normal Short

Clues to etiology from history/examination

Reassure and advise

routine height and Present Absent

weight yearly Bone age

by pediatrician

Confirmatory

test and Borderline statureSignificantly

treatment and / or normal short and / or

bone age delayed bone age

Observe growth

velocity for 1 year

Normal Abnormal

Screening

Investigation

Physiological

short stature Abnormal Normal

Karyotype in girls

Tests for GHD, RTA

and malabsorption

Reassure and advise Treat the

routine height and cause

weight yearly Abnormal Normal

by pediatrician

Treat the Idiopathic

cause short stature

FLOWCHART FOR EVALUATION OF GROWTH RETARDATION

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DIAGNOSTIC APPROACH TO AMBIGUOUS GENITALIA.

A child born with ambiguous genitalia constitutes a medico-social emergency and a

multidisciplinary team constituting a pediatric endocrinologist, pediatric surgeon and a

psychologist has to be convened. The initial goal is to assign the sex of rearing as quickly

as possible and the ultimate aim is to reach a definitive diagnosis.

What constitutes ambiguous genitalia:

1. Severe hypospadias with no gonads palpable

2. Severe hypospadias with one gonad palpable

3. Severe peno or perineoscrotal hypospadias with both testis descended.

4. Micropenis with no gonads palpable

5. Phenotypic female with mass palpable in groin or labium majora.

6. Phenotypic female with clitoral enlargement

History: -

Age of onset …present since birth,(disorders of sexual determination and differentiation)

Associated complaints…difficulty in passing urine, problems of urinary stream (hypospidias)

Hyperpigmentation (CAH), Failure to thrive, vomiting (CAH)

Polyuria, polydypsia, salt craving (CAH), Anosmia(Central hypogonidism),

Mental subnormalcy (syndromic forms),

inguinal hernias with prolapsed gonads (Androgen insensitivity syndrome)

Consanguinity (autosomal recessive disorders)

Family history of similar disorders, unexplained sibling deaths (CAH), anosmia

(central hypogonadism), infertility, hirsutism (CAH,hyperandrogenism),

menstrual irregularities, genital anomalies (dysmorphic syndromes) ,

inguinal hernias with prolapsed gonads (Androgen insensitivity syndrome)

Antenatal history :-

Drugs or hormone use (phenytoin inhibits 5 alpha reductase, progestins cause hypospadias),

Androgen producing tumours, virilization,

Natal history ..

Full term / Preterm ( 3.5% term male and 20% preterm can have

cryptorchidism)

Birth weight (IUGR)

On Examination:-

Anthropometry … Weight, Height, Surface Area, BMI ,Body proportion

Look for failure to thrive (CAH) , short stature (central hypogonadism)

Hyperpigmentation… Look at genitals, linea nigra, areola, axilla, knuckles, flexures.

Dysmorphic features …

Syndromic Forms

Denys Drash, Goldenhar, Smith lemli opitz, Frasier,

Robinow,VACTERL, Ellis van Creveld, and many more

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Chromosomal anamolies

Trisomy 13,Trisomy 18, Triploidy 4p-,13q- and many more

Examination of genitals

Are gonads palpable ….Unilaterally or bilaterally or none

Palpable gonads- mobile oval masses palpated below the inguinal

ligament are testes

until proved otherwise.(Federmans rule).

Evaluate for size, texture, presence of epididymis

2. Number of openings …..Single or two

3. Fusion of labioscrotal folds ….Complete or partial

4. Scrotum … well developed or poorly developed

5. Phallic length and breadth, Glans well formed / poorly formed.

6. Palpable gonad in inguinal swelling in a female

7. Hyperpigmentation

Assessment for presence of mullerian structures

Per rectal examination …needs experience

Pelvic ultrasound … Look for uterus and ovaries

Hormonal evaluation ( as indicated)

8:00 am - S.17 hydroxyprogesterone , S.Electrolytes, ….CAH

The integrity of the hypo- pit- gonadal axis by measuring

LH, FSH, Testosterone (T) , Dihydrotesterone (DHT),

HCG stimulation test with T/DHT ratio (in 5 alpha reductase deficiency)

Karyotype …to ascertain the genotypic sex.

Imaging-

USG pelvis to determine presence of internal organs and undescended testes.

Genitogram with retrograde contrast media , MRI.

Laproscopy and Gonadal Biopsy- definitive gonadal diagnosis

Enzymatic assays - skin fibroblasts for 5 alpha reductase deficiency and AIS.

Molecular biology- for specific mutations

79

INVESTIGATIONS FOR AMBIGUOUS GENITALIA

Features Identified Differential Diagnosis Most Appropriate Tests

No gonads palpable

Uterus present (digital

examination or ultrasound);

Hyperpigmentation

CAH

(21-OH D./ 11beta-OH Def.)

Serum 17-OHP

Electrolytes, glucose

Karyotype

Sinugram

Gonad(s) palpable;

No mullerian structures

Affected sibling, uncle, or

aunt

Partial AIS

Testosterone biosynthetic

defect.

Karyotype

hCG stimulation test

Pelvic ultrasound

Urogenital sinugram

Asymmetrical labioscrotal

folds

Gonad(s) palpable;

Mullerian structures

present

Dysmorphic features

Mixed gonadal

dysgenesis

True hermaphroditism

Karyotype

Gonadal biopsy

Pelvic and abdominal

ultrasound

Albuminuria,,BUN,

Electrolytes

CAH = Congenital adrenal hyperplasia; AIS = androgen insensitivity syndrome;

hCG = human chorionic gonadotropin.

DIAGNOSTIC INTERPRETATION OF CLINICAL FINDINGS IN AN INFANT WITH

AMBIGUOUS GENITALIA

Clinical Findings

Congenital

Adrenal

Hyperplasia

(CYP21)

Partial

Androgen

Insensitivity

Syndrome

XY Gonadal

Dysgenesis -

True herm

Testosterone

Biosynthetic

Defect

Genitalia

symmetrical

+ + - +/-

Hyperpigmentation + - - +/-

Gonad(s) palpable - + + +

Uterus present + - +/- -

Dysmorphic facies - - +/- -

Systemic illness +/- - - +/-

Positive family

history

Siblings Sibling, uncle,

or aunt

Sibling Sibling

+ = present; - = absent; +/- = present or absent.

80

BRONCHIECTASIS

Bronchiectasis is a disease characterized by abnormal irreversible dilatation of the

bronchial tree associated with recurrent infections and likely represents a common end

stage of a number of non-specific and unrelated antecedent events.

HISTORY:

PRESENTING COMPLAINT: Patients typically present with fever, chronic cough,

purulent sputum, weight loss and loss of appetite.

A) RESPIRATORY SYSTEM

SYMPTOMS

o Impaired exercise tolerance

o Cough -frequency/severity/nocturnal/exercise

induced/change in pattern.

o Sputum -volume/color/blood tinged/recent change

o Fatigue/Dyspnea/Chest pain

o Chronic sinusitis

o Wheezing might point towards allergic

bronchopulmonary aspergillosis

o Bronchodilators required and response to their use

PAST COMPLICATIONS: pneumothorax/hemoptysis

INVESTIGATIONS DONE: Sputum culture, chest x-ray, pulmonary function tests,

pulse oximetry.

THERAPY RECEIVED-exercise, physiotherapy, nebulised saline, bronchodilators

or antibiotics.

B) GASTRO INTESTINAL SYSTEM: Generally GI symptoms are present in cystic

fibrosis or in IgA deficiency. Liver is affected in alpha 1 antitrypsin deficiency.

History of weight loss/pain abdomen/vomiting/loss of appetite

History of oily, bulky or offensive stools.

History of meconium ileus or rectal prolapse

C) Recurrent pyogenic infections are suggestive of immunodeficiency. Recurrent

middle ear infections are suggestive of ciliary dyskinesia or immunodeficiency.

FAMILY HISTORY: History of tuberculosis or cystic fibrosis in the family.

IMMUNIZATION: History of receiving BCG or measles or pertussis vaccine.

EXAMINATION:

A) General Examination a) Pubertal status (Tanner staging) - A delay in puberty may be seen.

81

b) Nutritional status

c) Parameters –Weight, height, head circumference, percentiles.

d) Vitals- Pulsus paradoxus (severity of airway obstruction)

Pulses Alternans (congestive cardiac failure)

Bounding pulse (hypercarbia)

e) Look for clubbing/ cyanosis/ icterus

f) Ears –Secretory otitis media

g) Nose – Nasal polyps

h) Mouth- cyanosis/thrush

B) Affected systemRESPIRATORY SYSTEM

Inspection- Note the increase in AP diameter.

Cough-Moist/productive/ foul smelling

Perform peak flow measurement if possible.

Palpation- Measure the AP diameter (hyperinflation), Tracheal position, position of

apex, palpable pulmonary valve closure

Percussion- Hyperinflation /consolidation

Auscultation- Coarse leathery crepts over the affected region (First heard in the upper

lobes in cystic fibrosis)

Wheeze may be present

Loud second heart sound in pulmonary hypertension

Gallop rhythm in cor pulmonale

Dextrocardia in Kartagener syndrome

C) GASTRO INTESTINAL SYSTEM

Inspection –Distension of abdomen

Prominence of veins

Tanner staging

Striae (corticosteroids)

Palpation- Liver may be pushed down because of chest hyperinflation

Hepatomegaly

Splenomegaly

Ascites (fluid thrill/shifting dullness)

DIAGNOSIS:

Recurrent pulmonary infections and persistent productive cough are historic hallmarks of

the disease

a) HRCT is the procedure of choice. It shows dilated thickened bronchi extending into the

periphery of the lung and may be accompanied by the pulmonary artery giving a signet

ring appearance. To establish anatomic diagnosis, HRCT has replaced bronchography as

the procedure of choice.

82

b) CONTRAST BRONCHOGRAPHY –It remains the most sensitive method for

determining the presence and exact anatomic distribution of bronchiectasis. It is indicated

for the detection of persistent segmental atelectasis refractory to chest physiotherapy and

lesions obstructing the airway. Its use is very limited.

c) CHEST X-RAY –Typical findings include

- Increased bronchopulmonary markings and opacification of the affected area.

- Localized atelectasis/consolidation.

- Honeycombing.

d) BLOOD - Serum immunoglobulin (IgG & IgA) -IgG deficiency is a treatable cause of

bronchiectasis

- Sweat chloride testing

- Alpha 1 antitrypsin measurement

- Polycythaemia (chronic hypoxia)/Anemia (chronic infection)

e) PULMONARY FUNCTION STUDIES-Spirometry demonstrates obstructive pattern & in

advanced disease both obstructive and restrictive pattern is seen.

f) BLOOD GAS ANALYSIS

g) SPUTUM –Stain and culture for mycobacterium tuberculosis

Mucoid strains of pseudomonas aerogenosa are seen in cystic fibrosis.

Aspergillus in allergic bronchopulmonary aspergillosis.

h) BRONCHOSCOPY-This procedure is indicated for

- Bronchoalveolar lavage (bacterial fungal cultures)

- Endobronchial foreign body

- Detection of persistent atelectasis.

MANAGEMENT:

Prognosis depends on the cause. If treatable then treat the cause.

Chest physiotherapy and postural drainage are the mainstay of therapy.

Bronchodilators

Prompt and judicious use of antibiotics during exacerbation.

Intravenous immunoglobulin in hypogammaglobulinemia.

Surgical resection if the disease is progressive and localized.

83

HEPATOSPLENOMEGALY WITH ANEMIA

HISTORY:

Informant being-----------, name, a ------ yr old------ child, born of a consanguineous/ non-

consanguineous marriage, residing at-----------, belonging to----------- community was

brought to this hospital------- days ago with

Chief complaints: Abdominal distension

: Abdominal lump

: Associated with lump elsewhere

H/o Icterus, pallor, petechie, purpura.

H/o anorexia, nausea, vomiting, dysphagia, diarrhea, constipation, clay colored

stools, worms, mucus in stools.

Onset, duration, progress of the chief complaints should be enquired into.

No h/o Koch’s/ Koch’s contact or swelling of PPD given in hospital.

No h/o chronic fever with rigors (Chronic malaria/ Kala Azar)

No h/o jaundice in the past, hematemesis / malena / hematochezia / dilated veins

on abdominal wall (portal hypertension)

No h/o umbilical catheterization/ History /s/o umbilical sepsis in neonatal period

(Extrahepatic portal hypertension)

No h/o altered sensorium/ unconsciousness/ coma/ convulsions (hepatic

encephalopathy)

No h/o blood transfusions, other sibs affected (Hepatitis B/ Hepatitis C / Chronic

hemolytic anemia)

No h/o petechie, purpura/ ecchymosed (leukemia/ hypersplenism)

No h/o breathlessness/ edema feet/ increased precordial activity/refusal to feed

(CCF)

No h/o delayed milestones/myoclonic convulsions/incoordination (storage

disorder- Niemann-Pick disease, Gauchers)

No h/o defective vision/ hearing (Mucopolysacchridosis, Osteopetrosis)

No h/o fever / rash in mother during pregnancy (intrauterine infection)

No h/o fractures (Osteopetrosis)

EXAMINATION:

Patient is conscious, irritable.

Vital signs.

Anthropometry measurements – with percentiles.

Abdominal girth (in c/o ascites)

PRESENCE/ABSENCE: pallor, icterus, cyanosis, clubbing, significant

lymphadenopathy, edema feet, increased JVP (CONSTRICTIVE PERICARDITIS)

84

Look for platynychia/koilonychia, petechie, purpura/ ecchymosis, xanthomas,

pruritus marks, hemolytic facies, and phylecten.

Signs of liver cell failure

Genitals

BCG mark, PPD mark, abdominal tap mark, liver biopsy mark, SPG mark.

Skull/ spine

Dental cavity- dentition, fetor hepaticus

SYSTEMIC EXAMINATIONAbdominal system:

INSPECTION: Abdomen is round in shape, distended with everted stretched umbilicus

with fullness in flanks. There are no scars, abdominal tap marks, liver biopsy, SPG

marks, sinuses or dilated veins. Hernial orifices and genitalia are normal.

PALPATION: There is edema of abdominal wall/ doughy abdomen. Superficial palpation:

tenderness/guarding/ rigidity.

Deep palpation:

Liver-----enlarged-------cms in Right midclavicular line and ---------cms in midline below the

xiphisternum; upper border of liver dullness is in--------- Right Intercostal space; span-------

cm. The edge is sharp/ round/ leafy. The surface is granular/ lumpy/ tender/nontender.

Consistency----soft/firm/hard. Moves with respiration. Pulsations-Rub/bruit over the liver.

SPLEEN is--------cm from the left subcostal margin; is non tender; smooth in consistency;

soft/firm or hard; anterior notch is felt; there is/ is no bruit.

PERCUSSION: S/o free fluid in the form of puddle sign (120cc)/ Shifting dullness (>1

litre)/ Horseshoe dullness Fluid thrill (>2 litres).

AUSCULTATION: Bowel sounds, Bruits

Per rectal examination

Diagnosis

-------Yr old M/F from---------community born of a-------marriage with hepatosplenomegaly

with pallor/ icterus/ hematemesis/ malena/ IU infection/ umbilical vein catheterization with,

failure to thrive, with vitamin deficiency A/D/E/K. with s/s of liver cell failure, with s/s of

Portal hypertension with s/s of hypersplenism with dysmorphic features, or s/s of

congenital infection/ cataracts or s/s of storage disorder.

Differential diagnosis:

Hepatosplenomegaly:

Infection - Disseminated Koch’s, malaria, kala azar, SBE, IU infection, Neonatal

Hepatitis syndrome.

Hematological - Chronic hemolytic anemia, leukemia, Hodgkin’s lymphoma.

Congestive - CCF, constrictive pericarditis, Budd-Chiari, Portal hypertension.

Storage - Niemann pick disease, Gaucher, GSD, MPS.

Splenohepatomegaly:

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Gaucher’s disease type 1 to 4

Hepatosplenomegaly with lymph nodes:

Disseminated Koch’s, leukemia, lymphoma, infectious mononucleosis.

Splenomegaly with pallor/ icterus:

Hemolytic anemia, cirrhosis, Portal hypertension, hypersplenism.

Splenomegaly with petechie / ecchymosis:

Acute leukemia, SBE, ITP, hypersplenism.

Hepatomegaly:

TB, kwashiorkor, CCF, leukemia, lymphoma, congenital hepatic fibrosis, Storage

disorders (glycogenosis, MPS, Gauchers disease, Niemann-pick disease), tumors

(hepatoblastoma, wilms, neuroblastoma).

Splenomegaly:

Infections- malaria, kala-azar, TB, SBE, CMV, EBV, Toxoplasmosis.

Hematological -hemolytic anemia, hemoglobinopathies.

Congestive - PHT, cirrhosis, chronic CCF, constrictive pericarditis.

Infiltrative- Niemann-pick disease, Gaucher’s disease.

Neoplastic -leukemia, lymphoma.

Miscellaneous-Rheumatoid arthritis, SLE.

Massive splenomegaly-disseminated Koch’s, malaria, kala-azar, Extrahepatic

portal hypertension, tropical splenomegaly, spherocytosis, osteopetrosis.

Moderate splenomegaly- above+ leukemia, Hodgkin’s lymphoma, hemolytic

anemia.

Mild splenomegaly -above+ typhoid, SBE, septicemia.

Hepatosplenomegaly with anemia:

Neonatal -Isoimmune hemolytic anemia, congenital spherocytosis, alpha

thalassemia, TORCH, TB, congenital malaria, congenital leukemia, histiocytosis,

neuroblastoma, osteopetrosis.

Infancy- Thalassemia, sickle cell anemia, Malignancy, Malaria, Kala-azar, TB,

Gauchers, Niemann-Pick disease, GSD.

Childhood – spherocytosis, Infection, JRA, SLE, Cirrhosis with portal hypertension,

Malignancy

Hepatosplenomegaly with ascites:

Disseminated Koch’s

Cirrhosis of liver- post hepatitis, Indian childhood cirrhosis, Wilson’s Disease,

portal hypertension

Congestive- Constrictive pericarditis, Budd-Chiari, pericardial effusion.

Malignancy-rarely ascites.86

INVESTIGATIONSRoutine: Hb/CBC, platelet count, Peripheral smear, reticulocyte count

ESR: raised in TB, malignancy, and collagen vascular disease.

Urine routine: bile salts/bile pigments in urine.

Stool routine: occult blood, worms, E.Histolytica.

Chest X-Ray, MT

Specific tests : LFT- S.bilirubin, SGOT, SGPT, ALK.Phosphatase, total protein, albumin,

PT/PTTK

USG ABDOMEN: detects hepatosplenomegaly, liver architecture, gall bladder and biliary

tree pathology, portal vein size, lymph nodes and free fluid in abdomen.

Liver scan if required.

Liver biopsy.

Ascitic tap if significant quantity of free fluid present.

S.calcium/phosphorus/alkaline phosphatase.

S.BUN/creatinine/ electrolytes.

Other investigations depend on the etiology.

Slit lamp examination to detect KF ring, S.ceruloplasmin, urine copper excretion

(Wilson’s disease).

TORCH titres to r/o IU infection.

Hb electrophoresis to detect thalassemia, sickle cell disease etc

Other tests: HbsAg, Osmotic fragility, Blood culture, Bone marrow examination,

Plasma and urine aminoacidogram, Alpha-1 antitrypsin levels, Sweat chloride to

detect cystic fibrosis.

Treatment: depends on the underlying etiology.

THALASSEMIA

-------- yr old M/F child BOCM/ BONCM belonging to ----------------- community ,

weighing------ kg with an expected wt of ---------- kg residing at-------, hailing from-

presented with c/c of

increasing pallor

abdominal distension

failure to thrive

H/o repeated transfusions—transfusions started at what age, regularity and

frequency of transfusions.

H/o receiving any regular injections/ medications.

H/o discolouration of skin

H/o not achieving adequate weight and height.

Older child-----h/o having achieved puberty.

H/o repeated chest infections/ breathlessness

H/o deafness(sensorineural deafness due to desferrioxamine toxicity or bony expansion

and compression of the eight cranial nerve.)

H/o complications of blood transfusion------ blood transmitted disease, iron overload

FAMILY HISTORY----- OF Sibling/ relatives receiving transfusions

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DIET HISTORY------to check the iron consumption in food

Rest of the history as usual.

ON EXAMINATIONGENERAL INSPECTION

Position patient,Vital parameters ,Growth Parameters –Height ,Weight with

Percentiles ,Tanner staging for puberty ,

Skin Colour , Pigmentation , Pallor , Jaundice

Facial features-Frontal bossing/Parietal bossing/Chipmunk facies / Maxillary

Overgrowth/ Dental malocclusion /Prominent malar eminence/ Broadened

nasal bridge

Hands- Finger tip pricks / Pallor, pigmentation

Peripheral stigmata of chronic liver disease

Pulse -Slow(hypothyroid) ,Irregular(cardiomyopathy) , Alternans(CCF),

Hyperdynamic(anaemia)

Head & neck- Conjuctival pallor ,Scleral icterus ,Cataracts(desferrioxamine)

Retinopathy(desferrioxamine) , Teeth:dental malocclusion, Neck/goiter

Heart-Full precordial examination to detect cardiomyopathy, CCF, haemic

murmurs

Abdomen- Distension ,Splenectomy scar

Injection sites –Desferrioxamine/ Insulin

Hepatosplenomegaly

Lower limbs and gait- Leg ulcers , Ankle odema(CCF) ,Bony tenderness

Gait examination for long tract signs-----due to vertebral bony expansion and

cord compression

Delayed ankle jerk relaxation

Back examination for lordosis, tenderness

Others-Urinanalysis for glucose

Chvostek’s and Trousseau’s signs(hypoparathyroidism)

Hearing(sensorineural deafness)

Commonly asked questions:

Differential Diagnosis of Hemolytic anemias.

Ideal transfusion regime.

Complications of Thal major and Blood transfusions.

Penatal diagnosis.

Diagnosis of hypersplenism.

Chelation therapy

Recent advances in management of Thal major.

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HEPATOSPLENOMEGALY, JAUNDICE AND PORTAL HYPERTENSION

History:

Jaundice: Onset of Jaundice

Past history of jaundice – (Wilson’s disease, Autoimmune hepatitis, Hemolytic anemia)

Associated with high colored urine +/- clay colored stools (Obstructive jaundice)

Abdominal distension: Progressively increasing (organomegaly, ascitis), Associated

with pain: hepatitis

History of etiology: History of blood transfusion in past, Neonatal umbilical

catheterization, Family history of hemolytic anemia, jaundice, History of drug ingestion.

Immunization for Hepatitis B, Hepatitis A.Skin rash, joint pain (Autoimmune hepatitis)

History of complications: Bleeding from any site, Altered sensorium, altered sleep

pattern, Black colored stools, Ascitis, Night blindness, limb deformity, chelitis (Vitamin

deficiency). Fever, pallor, petechie (for hypersplenism).

Examination:

General examination: Jaundice, Signs of liver cell failure, Anthropometry to rule out FTT,

K-F ring, Fundus for chorioretinitis, signs for Vitamin Deficiencies, Edema, anasarca,

Clubbing, Anemia, Flapping tremors, Doll’s facies.

Abdominal examination:

Inspection: Localized bulge, distension (which quadrant is more affected), prominent

veins – direction of flow, hernial orifices, scars and sinuses

Palpation:

Superficial palpation: Guarding, tenderness, rigidity

Deep Palpation: Hepatomegaly- Tender/Nontender

Surface: Smooth/Nodular

Span and Size

Border: well felt/ sharp/diffuse

Consistency: Soft/firm/hard

Splenomegaly - Size (Grades of splenomegaly)

Consistency: Soft/firm

Splenic notch

Kidneys/Divarication of recti/ Hernial sites

Percussion: Shifting dullness/horseshoe dullness/fluid thrill. Puddle’s sign

Auscultation: Renal Bruit, Venous hum.

Diagnosis: Chronic hepatitis with hepatosplenomegaly with/without jaundice,

with/ without portal hypertension, with/without ascitis, with/without signs of liver cell

failure. Most likely etiology being : Autoimmune hepatitis/ Infective Hepatitis/

Wilson’s disease/ Drug Induced Hepatitis/Inborn error of Metabolism /

Storage disorder.89

Investigation:

Biochemical / Routine tests

LFT including PT/PTTS. Bilirubin SGOT/SGPTAlk.PO4Total Proteins /albuminRBSCBC with Retic.

Count

Special Etiological Tests

HbsAg, Anti HCV,

HIV

S.ceruloplasmin24 hours urine copperANA, dsDNA,Anti LKMAntitrypsin levels

Morphological tests

USG abdomen OGD scopy

Slit Lamp-

KF ring

Liver biopsy

Staining with HE

and PAS.

Treatment:

General measures: Proper nutrition and multivitamin supplementation,Vitamin K

supplementation, Sclerotherapy for oesophageal varices, Diuretics and salt restriction for

ascitis.

Specific measures: For Autoimmune hepatitis: Steroids. For Infective hepatitis:

Interferon/Ribavarin/ Lamivudine. For Wilson’s disease: Penicillamine. For Drug Induced

hepatitis : Avoid specific drug.

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NEONATAL CHOLESTASIS - HISTORY TAKING AND

EXAMINATION

C/O Jaundice: Onset of Jaundice

Associated with high colored urine +/- clay colored stools

(Obstructive jaundice)

Well child or ill looking infant

Abdominal distension: Progressively increasing (organomegaly, ascitis)

History of etiology: Maternal history of drug ingestion, jaundice / infection in pregnancy,

Neonatal umbilical catheterization

Associated skin rash, petechie, fever, cardiac disease

Full term or preterm

Dysmorphic features

Family history of hemolytic anemia

History of complications: Bleeding from any site

Altered sensorium

Ascitis

Examination: General examination: Jaundice,

Fundus for chorioretinitis

Signs for Vitamin Deficiencies

Edema, anasarca

Anemia

Dysmorphic features (Chromosomal, Alagille)

Cataracts

Abdominal examination:

Inspection: Localized bulge, distension (which quadrant is more affected)

Palpation: Superficial palpation: Guarding, tenderness, rigidity

Deep Palpation: Hepatomegaly- Tender/Nontender

- Surface: Smooth/Nodular

- Span and Size

- Border: well felt/ sharp/diffuse

- Consistency: Soft/firm/hard

: Splenomegaly - Size (Grades of splenomegaly)

- Consistency: Soft/firm

- Splenic notch

Kidneys/Divarication of recti/ Hernial sites

Percussion: Shifting dullness/horseshoe dullness/fluid thrill. Puddle’s sign

Auscultation: Renal Bruit, Venous hum

Other systems: Cardiac murmur, hydrocephalus, Meningitis

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Diagnosis: Neonatal jaundice with/without hepatosplenomegaly,

With/without ascitis

With/without dysmorphic features

With/without anemia

With/without associated anomalies

Most likely etiology being : Neonatal Hepatitis / Biliary atresia / Inborn error of

Metabolism / Galactosemia/ Chromosomal disorder

Investigation:

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Jaundice in newborn

 Conjugated jaundice Unconjugated jaundice

 Infective: Viral :CMV, Rubella, Reovirus III, Hep B Bacterial: E. Coli, Listeria, Protozoal: ToxoplasmaInherited : Niemann-Pick Type C, Galactosemia, Alpa-1 antitrypsin deficiency, Biliary Hypoplasia (Syndromic), Cholestasis with actin and microfilament accumulation, Progressive intrahepatic cholestasisChromosomal Anomalies: Trisomy 13/18/21IdiopathicBiliary atresia – Neonatal HepatitisCholedochal cyst

Miscellaneous: TPN, Hypothyroidism, Maternal alcohol Ingestion, Erythromycin estolate, Frusemide

Specific clinical features

Disorders Abnormal physical signs

Hepatic or biliary hemangioma Cutaneous hemangiomata

Extrahepatic biliary atresia Situs inversus

Biliary hypoplasia Systolic murmur, abnormal facies, embryotoxon

Generalized viral infections Skin lesions, purpura, chorioretinitis, myocarditis etc.

Galactosemia, hypoparathyroidismCataracts

Trisomy 21 ,13 or 18 Multiple congenital anomalies

Choledochal cyst Cystic mass below the liver

Investigation:

Treatment:

General measures:

Proper nutrition and multivitamin supplementation in cholestatic doses

Vitamin K supplementation

Phenobarbitone

Cholestyramine/Urodeoxycholic acid

Specific measures: Toxoplasmosis: Sulphamethaxazole, pyrimethamine

Galactosemia: Galactose free diet

Biliary Atresia: surgical intervention

Choledochal cyst: Surgical intervention

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Biochemical/ Routine tests Special Etiological

Tests

Morphological Tests Other tests Histopathology

LFT including BilirubinSGOT/SGPT/GTP/Alk.PO4PT/PTTTotal proteinsRFTHemogramS.electrolytesS.AmmoniaVBG RBS

Blood culture Urine cultureStool cultureCRPVDRLTORCH titres(Both of child and mother)HbsAg, HIVTest for GalactosemiaAntitrypsin levelsUAA/PAA

Thyroid function tests

USG abdomen HepatobiliaryScan Cholangiogram(Peroperative/Laproscopic)

X-ray spine:(Alagille)X-ray chest:(Cardiomegaly)Fundoscopy:(Chorioretinitis)

Staining with HE and PAS. 

RHEUMATOID ARTHRITIS

Informant: Name, age, sex, residence, community.

History:

Joints: Pain, swelling, joint restriction

Large/small joints involved or both

Number of joints involved

Pain: Acute/chronic joints involved

Early morning/continuous (morning stiffness is seen in JRA and post

infectious arthritis)

Duration/ course of pain

Swelling: warmth, redness

Deformity

TM joint, cervical spine, cricoarytenoid (hoarse voice), hip and back (pauciarticular type 2)

H/o infection/ trauma to joint/ stress/ rash/hematuria (SLE, Reiters)

H/o fever high grade with chills retuning to baseline (JRA)

H/o any fractures/asymmetrical growth (steroids/periarticular osteopenia)

H/o eye watering/ pain/ photophobia/ redness/ rash (JRA)

H/o easy fatigability particularly after school in the early afternoon (JRA)

H/o fever, preceding sore throat, fleeting joint pains, cardiac symptoms (Rheumatic

fever)

H/o oral ulcers/ facial rash/ photosensitivity/ alopecia (SLE)

H/o monoarticular arthritis/ cough/ Koch’s contact (Koch’s)

H/o travel, enteric illness in the family, exposure to sick pets (Reactive arthritis

following an enteric infection.)

H/o exposure to tick- (lyme arthritis)

H/o pauciarticular arthritis of small joints of the hands and ankle (psoriatic arthritis)

H/o loose motions/ mucus/ chronic diarrhea with pauciarticular arthritis affecting joints in

the lower extremities (IBD)

H/o Repeated severe systemic infections with peripheral arthritis (CVID or X- linked

agammaglobulinemia)

H/o chest pain (JRA, SLE with associated pericarditis or costochondritis)

H/o back pain (JRA, spondyloarthropathy)

H/o abdominal pain (serositis/ mesenteric adenopathy.)

H/o blood transfusions/ bleeding from sites/ family history of bleeding disorder

(Hemophilia)

H/o drugs/ vaccines/ sera

H/o pallor/ blood tranfusion/ abdominal pain/small joint involvement (Sickle cell anemia)

H/o fever, decreased appetite/ bone pain (ALL)

H/o bleeding gums/ limb pains (scurvy)

H/o treatment taken-response/compliance/ complications.

Family history-ankylosing spondylitis, reiters arthritis, IBD.

Other history details: Birth, diet, development, immunization, Socioeconomic

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EXAMINATION

VITALS & ANTHROPOMETRY

Pallor/ icterus/ cyanosis/ clubbing /lymphadenopathy/ oral ulcers

Eyes—episcleritis (lupus), posterior synechiae (JRA)

Muscle weakness (dermatomyositis and mixed connective tissue disease).

Joint examination

Single or poly

Symmetrical/asymmetrical

Rash/ nodules over pressure points

Check cervical spine/mouth opening/

- side to side movt: atlantoaxial joint

- Touching chin to shoulder and chest: lower cervical spine.

- TM joint tenderness-put finger in ear and ask patient to open Mouth and say

Ah (Micrognathia suggests chronic TM joint involvement)

Asymmetric limb length

JOINT EXAMINATION:

Inspection- swelling, shiny stretched skin, redness, scars

Palpation - warmth, tenderness, fluctuation, synovial thickening, patellar tap.

Extreme joint tenderness, high spiking fevers and migratory or additive polyarthritis

suggests rheumatic fever.

Movements

Tenderness over insertion of ligaments and tendons- Spondyloarthropathy

Other system examination

P/A--- -Liver, spleen, ascites.

CVS----pericarditis (pericardial friction rub with orthopnea)

RS-----pleuritis, rales.

CNS-----chorea

Diagnosis :

Acute/ chronic, duration, Pauci/ polyarticular arthritis of--------- joints, With/ without

systemic features, With etiology, With final classification, With/ without complications of

Rx.

Investigations:

CBC: WBC increased, platelet count increased, Hb decreased, MCV decreased

ESR- increased, CRP- increased

Sr. immunoglobulins- increased

ANA positive in 40-85% of all children with pauci or polyarticular JRA. Other conditions

with ANA positivity are -ITP, Crohns, chronic autoimmune hepatitis, Graves, malaria,

parasitic infection, drugs (phenytoin, ethosuximide, procainamide), leukemia, lymphoma.

Rheumatoid factor-should be done in older children with polyarticular involvement and in

children who develop rheumatoid nodules.

LDH-elevated in JRA

Thyroid function-When child presents with muscular weakness

Albumin decreased and Sr. protein- nephrosis and IBD95

X-ray of the involved joint-skeletal dysplasias associated with a degenerative

arthropathy

Bone scans or MRI- early osteomyelitis or malignancies. MRI studies with gadolinium

can reveal tissue abnormalities in JRA, dermatomyositis and sarcoidosis.

2D ECHO- pericardial involvement

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NEPHROTIC SYNDROME

Nephrotic syndrome is characterized by 4 components: proteinuria, hypoalbuminemia,

hypercholesterolemia and edema , the primary being proteinuria.

History :

Presenting complaint – Reason for current admission

Current symptoms-

General health ( anorexia, weight gain, lethargy, poor height gain)

Oedema (periorbital or ankle edema / anasarca , ascites)

Urinary- (hematuria, oliguria, concentrated urine)

Past history

Initial diagnosis ( when, where, presenting symptoms , initial investigations, established

etiology, initial treatment) , number of episodes per year ( usual precipitants , usual

treatment ) , number of hospitalizations, sequence of complications and management .

Management

Current diet , medications , management problems, present treatment in hospital usual

management at home, , home urine testing, drug effects, sequence of drug used,

compliance, future treatment plan , usual follow up.

Social history

Disease impact on the child (amount of school & play missed ), Impact on family

( financial constraints)

Understanding the disease by the child

Immunisation , dietary & Developmental history.

Examination

General – Position of the patient , mental state( irritable, altered )

- Vitals – pulse, Respiratory rate , BP & Temperature

- Sick / well

- Growth parameters .

- Tanner staging

- Nutrition & BCG mark

- Demonstrate distribution of edema-Ankle and leg, periorbital, sacral, ascites,

Pleural effusions & anasarca

- Skin- sallow, pallor, jaundice, petechiae, pyoderma marks

- Peritoneal tap marks

- Signs of steroid toxicity

- Signs of dehydration

- Joints( SLE, non MCNS)

Systemic examination –

Inspection – skin- scars, generalized distention , swelling.

Palpation – tenderness , guarding, abdominal wall edema,

- deep- kidneys ballotable ( nephromegaly),lymphnodes.

Percuss – fluid assessment – puddle sign, shifting dullness, horseshoe shaped

97

dullness, fluid thrill. Percuss the bladder

Auscultate

Genetalia – scrotal edema

Other systemic examination - As usual

Diagnosis : Child with anasarca and urinary disturbances (oliguria/ hematuria) , initial /

episodic , without hypertension, with / without complications , most probably renal cause -

MCNS/Non MCNS , Steroid responsive / non responsive.

Investigations

Urine – Specific gravity, PH, Casts, routine and microscopy , pus cells, blood &

Proteins. Quantify proteins loss – 24 hr u. protein estimation , albumin/ creatinine

Serology- Complete hemogram - CBC, ESR, Peripheral smear.

- BUN, S.Creatinine, and electrolytes

- Albumin and total proteins

- S.Cholesterol & lipid profile

- Complete hemogram – CBC , ESR ( usually above 100 mm HG)

- For secondary NS/Frequent relapser- Hepatitis B serology , ANA , Ds DNA

VDRL, and C3

Imaging – Xray chest if required ( TB, pleural effusion )

USG abdomen – kidney architecture & ascites and organic pathlology.

Management :

Hospitalize if first episode with severe edema and Nephrotic syndrome with complications

Diet - Salt restricted diet. Fluids based on output. Food with high biological value

proteins.

Rule out infection precipitated nephrotic syndrome ( CBC, Blood culture , urine ,

Peritoneal tap if peritonitis is suspected & underlying tuberculosis

Diuretics- judiciously

Corticosteroids – Initial episode - 2mg/kg/day (60mg/m2/day) in three divided doses for

1 month followed by 1.5 mg/kg/day ( 40 mg/m2) on alternate day -in the

morning a day for another month.-

For relapse- Daily predinisolone 2 mg/kg/day till urine become negative / trace

for 3 consecutive days followed by 1.5 mg/kg/day every alternate day for 1

month. Second agents- Cyclophosphamide, chloambucil, levamisole

Activity , immunizations – looked into

Monitoring - growth , steroid toxicity, urine proteins & complications of NS

98

Commonly asked questions :

Basic definitions - relapse, remission , frequent / infrequent relapser, steroid dependant

NS, resistant NS, nonresponder.

Methods to detect proteinuria.

Difference between nephrotic syndrome / nephritis

Indications for renal biopsy

Indications for second line agents.

Common infections & Complications of Nephrotic syndrome

Types of Nephrotic syndrome with prognosis

Management of non MCNS nephrotic syndrome

Congenital nephrotic syndrome & Secondary causes of nephrotic syndrome

Causes of anasarca

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Evaluation Form

Name ---------------------------------------------------------------------------------------------------

Address---------------------------------------------------Hospital ---------------------------------

Tel No: _________________________________ Email_________________________

What are your comments regarding this programme?

How do you rate the practical content of the Programme?

Excellent / Good / Average / Poor

Do you think such programmes benefit the post graduate

students ?

Any views / comments for future CMEs :

Any other comments?

Jgd

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Quiz Answers

Name ------------------------------------Appearing for -------------- exams

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2.

3.

4.

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7.

8.

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10.

11.

12.

13.

14.

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Special Thanks ……………

The Management of B.J.Wadia Hospital for Children.

Administration staff of B.J.Wadia Hospital for Children.

Senior Faculty Teachers .

Medical staff of B.J.Wadia Hospital for Children.

Pharmaceutical Companies for sponsorship

Wadia Library Staff

Residents of The B.J. Wadia Hospital for Children.

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