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STEPHEN J. THOMPSON, MD CHIEF, PEDIATRIC NEUROLOGY DIRECTOR, PEDIATRIC NEURO-ONCOLOGY HACKENSACK UNIVERSITY MEDICAL CENTER Tuberous Sclerosis Complex and.

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Presentation on theme: "STEPHEN J. THOMPSON, MD CHIEF, PEDIATRIC NEUROLOGY DIRECTOR, PEDIATRIC NEURO-ONCOLOGY HACKENSACK UNIVERSITY MEDICAL CENTER Tuberous Sclerosis Complex and."— Presentation transcript:

1 STEPHEN J. THOMPSON, MD CHIEF, PEDIATRIC NEUROLOGY DIRECTOR, PEDIATRIC NEURO-ONCOLOGY HACKENSACK UNIVERSITY MEDICAL CENTER Tuberous Sclerosis Complex and Seizures Knowledge is Power

2 What is TCS? Neurocutaneous disorder Neurologic structures and skin are derived from the same tissue in the embryo TSC: Bournevilles Bisease Skin, brain, kidneys, heart…

3 How and Why? TCS1 (9q24) and TSC2 (16p13) TSC1 Hamartin TSC2 Tuberin mTOR Involves abnormal cellular differentiation, proliferation, and migration Can affect every organ system in the body 1 of 10,000

4 TSC Diagnostic Criteria Consensus Conference Major and Minor Criteria A combination of findings is required No one finding can make the diagnosis

5 TSC Diagnostic Criteria-2 Definite TSC: Either 2 major features or 1 major feature with 2 minor features Probable TSC: One major feature and one minor feature Possible TSC: Either 1 major feature or 2 or more minor features

6 TSC: Major Features Facial angiofibromas or forehead plaque Non-traumatic ungual or periungual fibroma Hypomelanotic macules (more than three) Shagreen patch (connective tissue nevus) Multiple retinal nodular hamartomas Cortical tuber Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma, single or multiple Lymphangiomyomatosis Renal angiomyolipoma

7 TSC Minor Features Multiple randomly distributed pits in dental enamel Hamartomatous rectal polyps Bone cysts Cerebral white matter migration lines Gingival fibromas Non-renal hamartoma Retinal achromic patch "Confetti" skin lesions Multiple renal cysts

8 TSC Clinical Issues Skin Heart Kidneys Lungs, and teeth Brain and eyes: Seizures Cognitive/Academic/Developmental issues Subependymal nodules SEGA Headaches/Hydrocephalus

9 Seizures in TSC Age related Infantile spasms Lennox-Gastaut Syndrome Partial complex seizures Generalized seizures.

10 Infantile Spasms 1 in 2000 children overall but as many as 40% of children with TSC Specific clinical presentation Specific EEG findings Treatment: ACTH, oral corticosteroids Zonegran, Topamax TSC Vigabatrin

11 Other Seizures in TSC Partial complex seizures Trileptal, Vimpa,t etc… Generalized Seizures Keppra, Dilantin, Depakote, etc… Novel therapy Ketogenic Diet

12 Tumors in TSC: SEGA SEGA Subependymal giant cell astrocytoma Location Foramen of Monroe Presentation: Headaches Hydrocephalus

13 SEGA Treatment Surgical resection Chemotherapy Novel agent, AFINITOR (everolimus) mTOR inhibitor mTOR is inactivated in TSC AFINITOR can treat: SEGA AML Adenoma sebaceum Seizures?

14 Resources Tuberous Sclerosis Alliance TS Center at NEREG/HUMC


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