NEUROLOGY

Post Graduate CME Neurology

Bai Jerbai Wadia Hospital for Chidren, Mumbai

1) 4 yrs old, boy , FTND, Normal motor, mental and language milestones. Complaints from school – aggressive, cant sit in one place, restless, forgetful and impatient, problems with friends, fights

• Diagnosis?

• 3 cardinal features of this condition

• 2 treatment options

• ADHD

• Inattention, hyperactivity and impulsivity

• Medications (methyl phenidate, amphetamines, fluoxitine, atomoxitine), Behavior therapy

2)This child has epilepsy, MR, ataxia, unprovoked laughter, severe speech delay

• Diagnosis?• Chromosome involved• Inheritance• Name a syndrome with

the same chromosomal abnormality

• Angelman syndrome

• 15q11.2-12

• Uniparental disomy – usually maternal (60-75%)

- occ. paternal - normal chromosome ? Dominant mutations• Prader Willi – 15q11-13 (paternal origin)

3) 2 yrs old child born prematurely [28wks] comes with complaint of delayed achievement of motor milestones. Examination shows hypertonia with brisk reflexes in all 4 limbs more marked in lower limbs.

• What is the diagnosis? Define. • What is the MRI picture?• What is the treatment and when do you start it?• Name 2 conditions this child will be at risk for?

• Spastic Diplegia. Increased tone in all 4 extremities and face. LL>UL> face

• Periventricular leukomalacia

• Early intervention

• Learning disabilities,• Visual concerns• Epilepsy• Delayed mental development• Behavior concerns

4.A full term ,male child develops jaundice on day 3 of life, (S. bilirubin –34 mg%)and undergoes an exchange transfusion .

• What is the immediate complication likely to occur?

• Where is the anatomical abnormality? • What are the long term complications?• Name 1 investigations you would insist on

after discharge?

• Kernicterus

• Globus pallidus, dentate nucleus, cerebellar vermis, cochlear nuclei

• Choreoathetoid cerebral palsy, dystonic / dyskinetic CP, Sensorineural deafness,

• Audiometry testing

5. A child with apparently normal birth history :MS- social smile at 3 mths, Sitting at 8 months, rt hand preference at 9 mths, walking independently at 1.6 yrs.

• What is your diagnosis?

• What investigation will you do?

• What relevant maternal history will you ask for?

• Congenital hemiplegia

• MRI brain

• Maternal injury, threatened abortion, APC resistance, coagulation problem

6. Diagnosis

• 3 Differential diagnosis

• 3 differentiating features

• Ring enhancing lesion

• NCC, tuberculoma, toxoplasma, • abscess, tumor

• Peripheral vs central • single vs multiple• perilesional edema • smooth vs irregular• Scolex seen• Wall thickness• Intensity of cystic material

7. Diagnosis

• Name 2 other skin lesions

• Inheritance

• Other systems you would examine

• Name 3 lesions seen in the brain

• Ash leaf macule in Tuberous sclerosis

• Adenoma sebaceum , shagreen patch, café au lait spots

• Autosomal dominant

• Eyes, heart, kidneys, brain

• Tubers, subependymal nodules, subependymal giant cell astrocytomas

8. This 5 yr old comes with unsteadiness of gait with recurrent respiratory infections.

• Diagnose the conditionInheritance 3 salient features

2 lab investigations

• Ataxia Telangiectasia

• Autosomal recessive

• Ataxia, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, X ray hypersensitivity, malignancies

• Alpha feto proteins, Immunoglobulins,(low IgA, IgG, high IgM), chromosomal breaks with exposure to radiation.

9. 8 yr old boy with headache, vomiting, ataxia, diplopia.

• Clinical diagnosis?

• MRI shows SOL

• .Name 2 supra and infra tentorial SOLs

• For this SOL what other abnormalities will you expect

• Raised ICT

• Supra- Craniopharyngioma, astrocytoma, Gliomas, ganglioglioma

• Infra- meduloblastoma, glioma• Craniopharygioma

• Panhypopitutarism, Hypothyroidism, GH deficiency, Gonadotrophin deficiency, cortisol def.

10. CSF picture

Protein 1640mg% ,

sugar 45/92 , cells 150 P40 L60

• Identify the condition

• 3 pathological etiologies

• 3 features on CT scan

• Treatment options

• TBM

• Ischaemia, edema, exudates

• Infarct, basal exudates, hydrocephalus ( communicating /non communcating) tuberculomas,

• 4 drug AKT, steroids, anti edema, shunt surgery,

11. Child with fever, headache , vomiting and altered sensorium.

• CSF picture :proteins 130,

sugar 40/90,

cells 240 P40 L 60

• Give 3 differentials

• Give 2 other investigations

• Treatment options

• Partially treated pyogenic meningitis, early TBM, aseptic, viral meningitis

• Latex agglutination, HSV DNA PCR, CT scan with contrast, EEG

• Antibiotics, acyclovir 10 mg/kg 8 hrly for 14 days, AKT, supportive

12.Child with fever , convulsions, altered sensorium

CSF picture : protein 62,

cells 95 P10 L90,

sugars 45/80,

RBCs 80/ hpf

• Additional 2 investigations of choice

• Treatment with dose

• EEG - PLEDS-periodic lateralizing epileptiform discharges

• HSV PCR,( ? HSV IgG, IgM ), CT scan / MRI with contrast – bi/ uni temporal hyperintensities

• Acyclovir 10mg/kg/dose 8 hrly for 14 -21 days

13)1.5 yrs old child with fever and convulsions.

CSF picture : proteins 80, sugar 20 /60, cells 500 , P 90 L 10.

• Diagnose / 3 common organisms• Child develops tense AF with focal

convulsions on day 8. Probable causes?• 3 Long term sequelae

• Pyogenic meningitis; pneumococci, H influenza, meningococci

• Subdural empyema, cerebral absess, infarction.

• Sensorineural deafness, hydrocephalus, CP, MR, Epilepsy, behavioural problems

14)11 months old comes with neuroregression from 5 months of age. He is hypotonic on examination.

• Name 3 systems you would like to examine?

• Differentials

• Give 4 DDs of cherry red spots

• Investigation of choice

• CNS, abdominal, ophthalmology,

• Krabbes, GSD [Pompes], Tay sachs, gangliosidosis

• GM 1Gangliosidosis, sialidosis, tay sachs, niemann picks, sandhoffs, MLD,

mucolipidosis

• Leucocyte enzymes, fibroblast culture

15)18 months old child comes with recurrent strokes , ptosis , ataxia and myopathy.

• Diagnosis

• Investigation of choice

• Inheritance

• Name 2 more conditions of the same metabolic category

• MELAS

• Mitochondrial deletion study MRI with spectroscopy CSF Lactate, Blood Lactate. ABG-Anion Gap Metabolic Screen

• Maternal transmission• MERRFS, Kearn Sayers, Leighs, Alpers

16) 6 months old female child, FTND, has asymmetric infantile spasms, developmental retardation and choroidal lacunae. MRI clinches the diagnosis.

• What is the diagnosis?

• What is the MRI picture?

• What is the inheritance pattern?

• Aicardi syndrome

• Corpus callosum agenesis

• Posterior choroidal cysts,

• choroidal lacunae

• X linked Dominant

17) A boy presents with this skin lesion-

Give 4 differential diagnosis

When and how much would you investigate?

• Café au lait spot.

• DD- NF,Mc cune albright, TS, Ataxia telangiectasia, Maffuci, any phakcomatosis, Chediak Higashi

• If asymptomatic –No treatment VEP-Periodic intervals if abnormal do MRI for optic glioma

• If symtomatic –VEP, MRI,

EEG

18)• Name the sign• 3 DDs• 3 investigations in

sequence of importance

• Inheritance/ locus

• Gowers Sign

• Duchenne, SMA III, Limb girdle dystrophy, BMD, myopathy

• Dystrophin gene study, EMG /NCV, CPK levels

• X linked recessive/ Xp 21

19)• Diagnosis

• 2 associated abnormalities

• Classical CNS picture in CT scan and is described as

• Inheritance

• Sturge Weber syndrome

• Glaucoma, intracranial calcification, intractable epilepsy, hemangioma

• Tram track calcification

• Sporadic inheritance

• 20)

• Identify

• 2 salient features

• Criteria for diagnosis in newborn period are called:

• Child develops spastic quadriparesis.What will you suspect?

• Downs syndrome

• Facies, congenital heart defects, hypothyroidism ,deafness, hypotonia

• Halls Criteria

• Atlanto-axial dislocation

• 22)

• Diagnose

• Inheritance

• 2 associated abnormalities

• Investigation for Raised ICT

• Apert syndrome

• Autosomal dominant

• Proptosis, syndactyly, MR

• 3 D CTScan

• 23)

• This child came with neuroregression from 7 months of age with abn hand movts

• Diagnosis / DD• 3 salient features• Which milestones

are delayed?

• Retts syndrome / Autism

• Autism, stereotypies, microcephaly, loss of

fine purposeful hand movements

• Social, language

24) 10 month old , male, presents with progressive decreased activity since 3 months of age, breathing difficulty since 8 mths and pneumonia. Examination shows alert child with hypotonia and absent reflexes.

• What is the diagnosis ?• How do you confirm?• What is the inheritance? • Name 3 antenatal / natal features to ask for?

• SMA 1

• EMG/NCV, Gene studies

• SMA- AR,

• Decreased fetal kick count, polyhydramnious, previous fetal loses, weak cry, resp problems at birth.

25) 3 yrs old girl comes with drooping of both eyelids and squint noticed since 15 days. Abnormality seems to increase in the evenings.

• Diagnosis?

• Any 2 relevant questions?

• How do you confirm? Name 2 relevant investigations.

• Drug of choice.

• Myasthenia gravis

• Any other activity tires with time eg. Eating, walking, speech,

• Edrophonium test / Neostigmine test• Anticholinesterase antibody, EMG with

repititive stimulation, CTScan chest

• Pyridostigmine

• • 26 ) Label the

parts shown

• Corpus callosum

• Lateral ventricle

• 4 th ventrricle

• Pons

• medulla

EPILEPSY

1)4 Yrs old boy with normal motor and mental development becomes aphasic for last 15 days. He had a single GTC at 3.6 yrs.CNS examination is normal.

• Investigation of choice

• Diagnosis

• Treatment options

• EEG

• Landau Kleffner syndrome

• IV Ig , Steroids, AEDs

2) 6 yrs old girl with delayed development. Perinatal hypoglycemia. Symptomatic infantile spasms at 7 mths. Then focal seizures, generalised, myoclonic and now tonic.

• Diagnosis?• Drugs used?• AEDs to be avoided?• Non pharmacological treatment modalities

• Lennox Gastaut syndrome

• Valproate, Lamotrigine, Topiramate, clobazam

• Carbamazepine, phenobarbitone

• Corpus callosotomy, Ketogenic diet, vagal nerve stimulation

3) 10 yrs old boy presents with lip smacking, facial and eye deviation on left lasting 2 minutes after falling asleep. Similar history 3 and 6 months back.

• Investigation of choice?• Diagnosis?• Which investigation you need not do?• Prognosis?• Drug of choice?

• EEG

• Rolandic epilepsy/ BECTS

• MRI/Neuroimaging

• Good,

• Carbamazepine /oxcarbamazepine

4)4 days old newborn, FTND presents with multiple multifocal seizures. He has a normal systemic examination.

• DD- 3 most imp

• If strong family history of neonatal seizures present, what will u think

• Hypocalcemia,

• hypomagnesemia,

• 5 th day fits,

• BFNS,

• hypoglycemia

• BFNS

5) 6 yrs old boy comes with left sided focal seizures preceded by aura of fearfulness. He has history of prolonged febrile seizures at 1 yr of age. EEG shows right temporal epileptiform activity.

• What MRI picture do you expect?• Which virus has been suspected for the

same lesion?• What are the treatment options?

• Mesial temporal sclerosis

• Human herpes virus 6

• Temporal lobectomy

6) What does this EEG show?

• What is the drug of choice?

• Prognosis?

• One OPD procedure to confirm diagnosis

• 3 Hz spike and wave activity in Absence seizure – childhood /Juvenile

• Valproate, Lamotrigine, clobazam

• Good in childhood, slightly less for juvenile

• Hyperventilation

Jerk jerk

7) Diagnosis

• Confirmatory test

• 3 therapeutic options

• SSPE –burst suppression pattern

• CSF measles IgG

• Ribavarine, interferons, inosiplex, amantidine

8) Diagnosis

• Commonest etiology

• Drug of choice

• PLEDS

• Herpes encephalitis

• Acyclovir

9) 6 yr old male admitted with prolonged generalised seizures.

• Immediate AEDs –name 2 with dose

• 2nd line AEDs –2 with dose

• 3rd line – name 2

• Lorazepam [0.05mg/kg], • Diazepam [0.3mg/kg],• midazolam[ 0.2mg/kg]

• Phenytoin[ 20mg/kg],• phenobarb[20/kg]

• Midazolam drip,• propofol,• thiopentol

10) 6 months old child with h/o perinatal insult comes with regression of social milestones and clusters of startles on awakening .

• Diagnosis

• Name 2 investigations you will ask for?

• Infantile spasms, West syndrome

• EEG, MRI

• Hypsarrhythmia

• ACTH / steroids, Vigabatrin, Valproate /Topiramate / Nitrazepam

11) SODIUM VALPROATE

• Each 5ml of syrup contains • Commonest 3 side effects• Contraindicated in• Synergistic activity with• Dosage range• With Lamotrigine what precautions Are

needed?

• 200 mg, or 40 mg/ml

• Weight gain, hair loss, hepatotoxic, PCOD, hirsutism, hyperammonemia

• Inherited Metabolic disorder, underlying liver dysfunction

• Lamotrigine

• 10-40 mg/kg/day

• Cut the dose of VPA when adding LMT

12) Topiramate

• 2 indications

• 2 side effects

• Contraindicated in

• Tablet strength? Syrup? Any other preparation known?

• Generalised, partial, Infantile spasms, LGS

• Wt loss, word finding difficulty – speech regression, blurred vision, renal calculi, hyperthermia

• thin children, speech concerns

• 25 / 50 / 100mg. No syrup. Sprinkle

13) Carbamazepine

• Commonest side effects

• Not used in

• Higher derivative with advantage

• Syrup strength

• Ataxia , diplopia, rash, hyponatremia, cognitive decline, behavior concerns

• Absence, myoclonic

• Oxcarbazepine, less side effects

• 5ml = 100mg

14)Lamotrigine

• Indication, Dose

• Synergistic with?

• What dosage modification done?

• Life threatening side effect?

• Partial, generalied, LGS, JME;

• 3-7 mg/kg/d

• Valproate,

• Reduce the dose of VPA prior to starting

• Steven Johnson syndrome

• 15)Name 3 newer AEDs

• Name a carbonic anhydrase inhibitor used as AED

• Ocarbamazepine, Topiramate, Lamotrigine, Vigabatrine, Gabapentine, Zonisamide, Leviteracetam, Felbamate, Tiagabine

• Acetazolamide, Topiramate

16) 3 months baby has intractable epilepsy since birth and delayed development

• Name 2 vitamins you can try

• Does not respond to them – what investigation next

• Pyridoxine

• Biotin

• Metabolic workup, MRI – dysplasia, metabolic

17) 1st unprovoked generalised seizure in a 2 yr old child

• Essential investigation

• Optional investigation

• Treatment of choice

• EEG

• MRI, biochemistry, CSF

• Nil , unless specific indication