neurocutaneous markers and congenital malformations - dr. s. srinivasan, professor of pediatrics,...
TRANSCRIPT
![Page 1: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/1.jpg)
Neuro-Cutaneous Syndromes
in Children ( NCS )
MGMCRI-
8th
& 9th
Semesters MBBS- UG
Pediatrics Theory Lecture
31 mar 16
S.Srinivasan
Professor of Paediatrics
MGMCRI, Pillayarkuppam
Puducherry
![Page 2: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/2.jpg)
Neurocutaneous Syndromes in Children ( NCS )
Learning Objectives
1. Define the term – “ Neurocutaneus Syndromes”
2. List three common types in NCS
3. Explain the reason of association between Skin and CNS
disorders
4. Recognize the cutaneous lesions; Explain or Correlate their
presence with the neurological disorders and Diagnose the
specific NCSyndrome
5. Tell the mode of genetic inheritance of the NCS
6. Enumerate salient clinical features ( Signs & Symptoms ) of
the most common NCS
7. List a few common complications of these conditions
8. Choose appropriate investigative work up
9. Outline briefly the management plan of the common NCS
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 3: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/3.jpg)
Central Nervous System Disorders
with concurrent lesions in the
Skin, Eye,
and possibly
other Visceral Organs
Neurocutaneous syndromes
Refer to a heterogenous group of
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 4: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/4.jpg)
• The NeuroCutaneous ( Skin & CNS
manifestations are related to the
“ COMMON ECTODERMAL ORIGIN ” of
these organs
• Heredofamilial Disorder
• Defective differentiation of primitive
ectoderm
Neurocutaneous syndromes
Remember the Following 3 Basic POINTS
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 5: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/5.jpg)
• Tuberous Sclerosis
• Neurofibromatosis
• Sturge- weber Syndrome
• Incontinentia Pigmenti
• Hypomelanosis of Ito
• Ataxia Telangiectasia
• Von Hippel – Lindau Disease
• Linear Nevus Syndrome
• PHACE Syndrome
Neurocutaneous syndromes
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 6: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/6.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Plexiform Neurofibroma
Son and mother having NCS:
Eyelid skin Neurofibroma &
skin Neurofibromas
![Page 7: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/7.jpg)
Tuberous Sclerosis
Inherited ( Autosomal Dominant with “ NEAR
COMPLETE” penetrance ) Neuro - Cutaneous
disorder
Characteric pleomorphic features involving
many organ systems, including multiple benign
neoplasms (hamartomas) of the brain, kidney,
and skin
Nonfamilial cases ( spontaneous mutations or
mosaicism )
2 TS genes- ch 9 & 16 (TSC1 & TSC2 genes)
and the other on chromosome 16 (gene)
PHYSICAL FINDINGS & CLINICAL NEUROCUTANEOUS SYNDROMES -MGMCRI- 8
th&9
thSemesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 8: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/8.jpg)
Dermatologic manifestations :
clues to the diagnosis
Vogt’s Classic diagnostic triad
( Seizures, mental retardation, &
Facial Angiofibromas ) - <50%
All clinical features of TS :
Not apparent in the first yr of life
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Tuberous Sclerosis –
Clinical Features
![Page 9: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/9.jpg)
Skin Features in Tuberous
Sclerosis
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Hypomelanotic ASH LEAF Macules
Facial Angiofibromas (Adenoma
Sebaceum)
Shagreen's patches
Forehead Plaque
Ungual Fibromas
![Page 10: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/10.jpg)
Dermatologic manifestations in
children with Tuberous Sclerosis
Easiest and most accessible method
of establishing the diagnosis
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 11: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/11.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
ADENOMA SEBACEUM (Facial
Angiofibromas)
Shagreen’s patches
Tuberous Sclerosis
![Page 12: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/12.jpg)
ADENOMA SEBACEUM
(Facial Angiofibromas)
Forehead Plaque
Tuberous Sclerosis
![Page 13: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/13.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Café – au – lait spots or patches
![Page 14: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/14.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 15: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/15.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 16: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/16.jpg)
Neurologic manifestations in
Children with TS
Brain hamartomas:
- Cortical tubers
- Subependymal Nodules
- Subependymal Giant Cell Astrocytomas
Intractable seizures -90% to 96% of TS
Infantile spasms: Most common
First epileptic episode in the first 2 yr of life in
85% of children
Behavioral and cognitive dysfunction, including
autism and mental retardation: 40% to 50%
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Leading cause of morbidity and mortality
![Page 17: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/17.jpg)
Involvement of the other Organs in TS
Renal Angiomyolipoma
Pulmonary (1%
to 6%)
Lymphangiomyomatosis
(LAM), a progressive cystic
lung disease
Cardiovascular
(50 to 60 %)
Rhabdomyoma (most
common ) - - Primary
cardiac tumor in infants
and children;
80% to 95% of patients with cardiac
rhabdomyomas have TS
Ocular ( 40% to 50% ) Retinal Hamartomas
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 18: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/18.jpg)
Early recognition of TS
• Neuroimaging studies
• EEG
• ECG
• Cardiac, Chest & Renal
ultrasonography
• Chest CT
VITAL TO PREVENT
SERIOUS CLINICAL CONSEQUENCES.
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 19: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/19.jpg)
Neurofibromatosis- (NF)
• 2 Types: NF-1 & NF-2
• Inheritance of both types:
Autosomal Dominant
• Main features: Nerve tumors , Skin
changes seen as features/markers
with bone deformities
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 20: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/20.jpg)
Axillary Freckling
Iris :2 or more Lisch Nodules
2 or more
Neurofibromas
over the skin or
even 1 Plexiform
Neurofibroma
Sphenoid Dysplasia
Neurofibromatosis-1 (NF-1)
Classic features
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 21: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/21.jpg)
Commonest of the 2 types
Incidence: 1 in 3000
Implicated gene in Ch17
Neurofibromin – Encoded Protein
Neurofibromatosis-1 (NF-1)
Few Basic known Facts
1) 6 or more Café –au – lait spots
2) Freckling in axillary or inguinal regoin
3) Lisch Nodules -2 or more seen over iris of the eyes
4) 2 or more Neurofibromas over the skin or even 1
Plexiform Neurofibroma
5) Distinctive Bone lesion – Sphenoid Dysplasia
6) Optic Gliomas –Low grade Astrocytomas
7) A first degree relative with NF -1
Diagnosis
Presence of 2 / 7
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 22: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/22.jpg)
Complications in
Neurofibromatosis-1 (NF-1)
Seizures
Macrocephaly
Hydrocephalus
Learning, Behavioural & Speech
Disabilities,ADHD
Moya-Moya Disease
Precocious Puberty
Systemic Hypertension: Fibromuscular
Dysplasia, Phaeochromocytoma
Malignancies:
N.Fibrosarcomas; Malignant Schwanomas
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 23: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/23.jpg)
Rarer (1 in 25000)
NF2 Gene (Merlin or Schwannomin )
Gene: Ch 22q
Less common : Café au lait spots &
Skin neurofibromas
Eyes: 50% - Posterior Subcapsular
Cataracts / Lens opacities
Neurofibromatosis-Type2 (NF-2)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 24: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/24.jpg)
Neurofibromatosis-Type2 (NF-2)
Diagnosis made –
Presence of any one of the following
1. Bilateral vestibular Schwannomas
2. Family ( parent, sibling or child with
NF-2)
a) unilateral vestibular schwannoma
or
b)Presence of any two of the following:
- Meningiomas, Schwannoma, Glioma,
Neurofibroma or Posterior Subcapsular
lenticular opacities
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 25: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/25.jpg)
STURGE –WEBER SYNDROME
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 26: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/26.jpg)
Sturge-Weber syndrome (SWS)
Sporadic vascular disorder
1 in 50,000 live births
Constellation of symptoms and signs
Facial port-wine stain capillary
malformation
Leptomeningeal angioma ( Abnormal
blood vessels of the brain )
Abnormal blood vessels of the choroid
of the eye →Buphthalmos (Glaucoma)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 27: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/27.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Hyperdense gyriform calcifications in left
parieto-occipital lobe with evidence of
moderate gyral enhancement
Nevus Flammeus Lt.Parietal Menin.
Haemangioma
![Page 28: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/28.jpg)
Sturge-Weber syndrome
Port-wine stain involving
both V1 V2 dermatomes
CT scan- unilateral calcification &
atrophy of cerebral hemisphere
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 29: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/29.jpg)
Presenting Symptoms of Sturge –Weber
Syndrome ( SWS )
Seizures ( 90% of children with SWS )
Hemiparesis
Stroke-like episodes
Visual disturbances -Hemianopsia
Headaches
Developmental and Intellectual
delay
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 30: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/30.jpg)
Management of SWS
consists of anticonvulsants and surveillance for
complications including glaucoma, buphthalmos, and
behavioral abnormalities
Regular measurement of intraocular pressure
AIMS:
Seizure control
Treatmentof headaches, and
Prevention of stroke-like episodes
Monitoring of glaucoma and
Pulsed-dye Laser therapy for the cutaneous capillary
malformation
Surgery in selected refractory cases :
Hemispherectomy.
Symptomatic & Multidisciplinary Management
![Page 31: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/31.jpg)
von Hippel-Lindau disease
1 in 36,000 newborns
Autosomal Dominant
Mutation affecting a tumor suppressor
gene, VHL
Multiorgan involvement: Cerebellum,
spinal cord, retina, kidney, pancreas,
and epididymis
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 32: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/32.jpg)
Major neurologic features
Cerebellar & Spinal Cord
hemangioblastomas
Retinal Angiomas (25%)
Cystic lesions: Kidneys,
Pancreas, Liver and Epididymis
Pheochromocytoma: Common
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 33: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/33.jpg)
Skin : Earliest symptom
Skin lesions may follow Blaschko lines
and their melanoblasts start to
transform into melanocytes after birth
3 or 4 stages :- Vesicular, Verrucous,
Hyperpigmented, and sometimes
Hypopigmented stagemonths and
disappear within 6 months after birth.
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Incontinentia Pigmenti (IP)
('Bloch-Sulzberger syndrome' )
![Page 34: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/34.jpg)
Incontinentia Pigmenti (IP)
('Bloch-Sulzberger syndrome' )
Rare (1 per 40,000) X-linked
genodermatosis
Mutation of NEMO/IKKr gene in X-
Chromosome
Occurs mostly in female infants
(95%)due to its fatality in male in
utero
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 35: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/35.jpg)
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 36: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/36.jpg)
MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture 31 mar 16
![Page 37: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/37.jpg)
Other Organs involved in IP
Teeth: Delayed eruption of teeth, changes in dental
contour (circular or conical shape), and hypodontia
Eyes (RETINOPATHY): Speckled diffuse
hypopigmentation in the retina, microphthalmia,
lenticular hemorrhage, retrolental fibroplasia, cataract,
and atrophy of the optic nerve
CNS: seizure, microcephaly, mental retardation, and
spastic Paralysis
Musculoskeletal, and Cardiovascular anomalies
Incontinentia Pigmenti (IP)
('Bloch-Sulzberger syndrome' )
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
![Page 38: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/38.jpg)
ATAXIA-TELANGIECTASIA
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
Mutation of ATM Gene
Ataxia (12-25 months ), Nystagmus,
Chorea
Ocular Telangiectasia (2-7 years)
Chronic Sinopulmonary Infections
Vitiligo
![Page 39: Neurocutaneous Markers and Congenital malformations - Dr. S. Srinivasan, Professor of Pediatrics, MGMCRI](https://reader033.vdocuments.net/reader033/viewer/2022052117/58add9f71a28ab33798b6165/html5/thumbnails/39.jpg)
• GTT: abnormal
• Serum IgA & IgE : Decreased
• Alpha –Fetoprotein &
Carcinoembryogenic Antigen :
Elevated
• Chromosomal Breakages
• Neuroimaging: Cerebellar Atrophy
• Predisposition to Lymphoreticular
malignancies.
NEUROCUTANEOUS SYNDROMES -MGMCRI- 8th
&9th
Semesters MBBS-UG PEDIATRICS Theory Lecture
31 mar 16
ATAXIA-TELANGIECTASIA