Tuberous Sclerosis is a genetically inherited neurocutaneous syndrome can affect families in an autosomal dominant. in this presentaion i will try and give u a review to the case and its management. it will help u get a n outllook to diagnose a case of tuberous sclerosis i have shown some images of the lesions present in the case to get a photographic memory.

1. Dr. Amit Vatkar
MBBS, DCH, DNB Pediatrics
Fellow in Pediatric Neurology, Mumbai
Trained in Neurophysiology & Epilepsy,
USA
Contact No. : +91-8767844488
An interesting case of
tuberous sclerosis

2. 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

3. BIRTH HISTORY:
Full term normal vaginal delivery at a
hospital
Cried immediately after birth
DEVELOPMENTAL HISTORY:
Developmentally normal
FAMILY HISTORY:
Non consanguinous marriage
Father had seizures till 5 years of age
Elder brother had right focal seizures till 2
years of age and has myoclonic seizures
for past 6 months

4. 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

6. Shagreen patch- facial angiofibroma

7. father

8.  CNS EXAMINATION:
 Higher functions :normal
 Cranial nerves:normal
 Motor system:
bulk-normal in all 4 limbs
power-5/5 in all 4 limbs
tone:normal
reflexes-readily elicitable
gait-normal
sensory system-normal
no cerebellar signs
spine and cranium -normal

9. • Cardiovascular system:
first and second heart sounds were heard
no murmur
Respiratory system:
normal vesicular breath sounds were heard
Abdomen:
no organomegaly

10. Investigations:
• Routine investigations-normal
• EEG:poorly formed theta intermixed
with delta.bilateral sharp waves with
slow wave discharges seen
 CT BRAIN:multiple periventricular
nodules s/o TORCH infection
 Suggestive of tuberous sclerosis
 Advised ECG,chest x-ray,echo,USG
abdomen

12.  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

13. • TREATMENT:
• T.Sodium valproate

14. TUBEROUS SCLEROSIS
(Bourneville disease,cerebral
sclerosis,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

15. PATHOLOGY
• Characteristic gross abnormality in
brain is multiple gliotic
nodules(tubers)
• Over convolutions of cerebral
hemispheres and subependymal
region
• 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

16. CLINICAL FEATURES
Seizures are the most common symptom
May manifest as infantile spasms or partial
seizures
May later have generalised seizures
May be difficult to control
Mental function varies greatly
Outcome of mental function is generally
considered poor
One third of the patients may have normal
intelligence

17. 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

18. Shagreen patch-leathery plaque with orange peel
consistency
-over lumbosacral or gluteal region
-develop between 2-5 years of age

19. Subungual or periungual
fibromas:
• In 20%
• May appear first during
adolescence

20. 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

21. LUNGS:
• Angiomyolipomas may produce cystic or
fibrous changes leading to spontaneous
pneumothorax
Eyes:
• A nodular mulberry tumor can be
seen on optic nerve head

22. 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 cell
astrocytoma
• 9)cardiac rhabdomyoma
• 10)lymphangiomyomatosis
• 11)renal angiomyolipoma
MINOR CRITERIA:
1)Dental enamel pits
2)Hamartomatous renal
polyps
3)Bone cyst
4)Cerebral white matter
radical migration lines
5)Gingival fibromas
6)Non renal hamartoma
7)Retinal achromic patch
8)Confetti skin lesions
9)Multiple renal cysts
DEFINITE:either 2 major (or) one major and 2 minor
PROBABLE:1 major and 1 minor

23. Neuroimaging studies are
important in confirming diagnosis
CT demonstrates calcified nodules
in subependymal region
MRI shows nodular subependymal
lesions 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

24. TREATMENT
• No cure is possible
• Treatment is symptomatic
1)drugs to control seizures
2)surgical removal of growth
3)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)

25. 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 disorders
2. Developmental Disorders including delayed speech, motor milestones, and
coordination issues
3. Autism and other Behavioural disorders, including attention-deficit/hyperactivity
disorder (ADHD), school failure and sleep problems
4. Movement Disorders,
5. Cerebral palsy, muscular dystrophy, and nerve muscle disorders
6. Headaches, including migraines

26. Dr. Amit Vatkar
Pediatric Neurologist, Navi Mumbai
MBBS, DNB
Email: vatkaramit@yahoo.com
Contact No.: +91-8767844488
Visit us at: http://pediatricneurology.in/
THANK
YOU !