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Dr. Amit VatkarMBBS, DCH, DNB Pediatrics
Fellow in Pediatric Neurology, MumbaiTrained in Neurophysiology & Epilepsy,
USA
Contact No. : +91-8767844488Email: [email protected]
An interesting case of tuberous sclerosis
HISTORY
2 years old female child of non consanguinous marriage
Convulsions since 6 months of age
-about 1 episode /month
-right focal
-each episode lasting for 20 minutes
-associated with fever
- was treated as a case of atypical febrile seizures by a private practitioner with T.sodium valproate which was discontinued for 3 days
No other relevant history
BIRTH HISTORY:Full term normal vaginal delivery at a
hospitalCried immediately after birth
DEVELOPMENTAL HISTORY:Developmentally normal
FAMILY HISTORY:Non consanguinous marriageFather had seizures till 5 years of ageElder brother had right focal seizures till 2 years of age and has myoclonic seizures for past 6 months
General examination
Vitals were stable
Hypopigmented macules- 3 in number were seen in the back
A shagreen patch was seen in the left thigh
Weight :10 kg/12 kg
Height:80 cm/89 cm
Head circumference:46 cm/48 cm
Shagreen patch- facial angiofibroma
father
CNS EXAMINATION: Higher functions :normal Cranial nerves:normal Motor system:
bulk-normal in all 4 limbspower-5/5 in all 4 limbstone:normalreflexes-readily elicitablegait-normal
sensory system-normalno cerebellar signsspine and cranium -normal
• Cardiovascular system:
first and second heart sounds were heard
no murmur
Respiratory system:
normal vesicular breath sounds were heard
Abdomen:
no organomegaly
Investigations:
• Routine investigations-normal• EEG:poorly formed theta intermixed
with delta.bilateral sharp waves with slow wave discharges seen
CT BRAIN:multiple periventricularnodules s/o TORCH infection
Suggestive of tuberous sclerosis Advised ECG,chest x-ray,echo,USG
abdomen
ECG-within normal limits
Chest x ray –normal
Echo-normal
USG abdomen-no evidence of renal pathology
Ophthalmologist opinion:
-no evidence of mulberry tumor
IQ testing-Normal
TORCH screening-negative
• TREATMENT:
• T.Sodium valproate
TUBEROUS SCLEROSIS
(Bourneville disease,cerebralsclerosis,Epiloa,Tuberous sclerosis complex)
Autosomal dominant disorder with an inherited frequency of 1/6,000
Extremely heterogenous disease with a wide clinical spectrum varying from severe MR and incapacitating seizures to normal intelligence and lack of seizures in the same family.
2 foci-both are tumor suppressors
1)TSC1(on chromosome 9-hamartin)
2)TSC2(on chromosome 16-tuberin)
Heart,kidneys,eyes,lungs and bones
PATHOLOGY
• Characteristic gross abnormality in brain is multiple glioticnodules(tubers)
• Over convolutions of cerebral hemispheres and subependymalregion
• Calcification may occur in the tubers as early as 5 months of life
• Tubers in foramen of monro may obstruct CSF flow
• Tubers occasionally differentiate into malignant astrocytoma
CLINICAL FEATURES
Seizures are the most common symptomMay manifest as infantile spasms or partial
seizuresMay later have generalised seizuresMay be difficult to controlMental function varies greatlyOutcome of mental function is generally
considered poorOne third of the patients may have normal
intelligence
SKIN MANIFESTATIONS
Adenoma sebaceum-red or pink papules over nose,cheeks and chin-1-4 years of age
hypopigmented spots over trunk and limbs-commonly apparent at birth-3 types:polygonal
ash leaf shaped(most characteristic)and confetti shaped
Shagreen patch-leathery plaque with orange peel consistency
-over lumbosacral or gluteal region
-develop between 2-5 years of age
Subungual or periungual
fibromas:
• In 20%
• May appear first during
adolescence
HEART:
50% have rhabdomyomas of heart
Numerous or solitary at the apex of
heart
Tend to resolve spontaneously
KIDNEYS:
In 50-80%
Manifests as renal cysts or
angiomyolipomas
incresed risk of renal cell carcinoma
LUNGS:
• Angiomyolipomas may produce cystic or fibrous changes leading to spontaneous pneumothorax
Eyes:
• A nodular mulberry tumor can be
seen on optic nerve head
MAJOR CRITERIA:• 1)facial angiofibromas
• 2)non traumatic ungual or periungual fibromas
• 3)hypomelanotic macules
• 4)shagreen patch
• 5)Retinal nodular hamartomas
• 6)cortical tuber
• 7) subependymal nodules
• 8)subependymal giant cell cellastrocytoma
• 9)cardiac rhabdomyoma
• 10)lymphangiomyomatosis
• 11)renal angiomyolipoma
MINOR CRITERIA:1)Dental enamel pits2)Hamartomatous renal polyps3)Bone cyst4)Cerebral white matter radical migration lines5)Gingival fibromas6)Non renal hamartoma7)Retinal achromic patch8)Confetti skin lesions9)Multiple renal cysts
DEFINITE:either 2 major (or) one major and 2 minor
PROBABLE:1 major and 1 minor
Neuroimaging studies are important in confirming diagnosis
CT demonstrates calcified nodules in subependymal region
MRI shows nodular subependymallesions that are not yet calcified
No relation between periventricular calcification and severity whereas greater number of cortical lesions detected by MRI in severely affected patients
INVESTIGATIONS
TREATMENT
• No cure is possible• Treatment is symptomatic
1)drugs to control seizures2)surgical removal of growth3)treatment of skin leisions using LASER
• TREATMENT OF EPILEPSY:• Vigabatrin is effective in infantile spasms• Topiramate,lamotrigine and levotiracetam are other drugs used• Other modalities available-vagus nerve stimulation,ketogenic diet
and resective surgery(focal seizures with good EEG-MRI correlation)
About Dr. Amit Vatkar
Dr. Amit Vatkar is a Pediatric Neurologist from Mumbai, India. He has completed his fellowship in Pediatric Neurology with specialising in Epilepsy surgery workup from Hinduja hospital under the guidance of Vrajesh Udani, top neurologist in India. He has also been trained in Epilepsy & neurophysiology at Case Western Reserve University at Cleveland under the guidance of Dr. Hans Luders.
He specialises in Clinical Neurophysiology (EEG, EMG and NCV). He also provides portable EEG services in Mumbai.
Currently, He is supporting many schools for children with special needs. He is attached to major hospitals in Mumbai where he consults pediatric neurological cases. His areas of expertise are
1. Epilepsy, Seizure disorders2. Developmental Disorders including delayed speech, motor milestones, and coordination issues3. Autism and other Behavioural disorders, including attention-deficit/hyperactivity disorder (ADHD), school failure and sleep problems4. Movement Disorders, 5. Cerebral palsy, muscular dystrophy, and nerve muscle disorders 6. Headaches, including migraines
Dr. Amit VatkarPediatric Neurologist, Navi Mumbai
MBBS, DNB
Email: [email protected] No.: +91-8767844488
Visit us at: http://pediatricneurology.in/
THANK YOU !
