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Tuberous Sclerosis Complex and Seizures “Knowledge is Power”

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Presentation on theme: "Tuberous Sclerosis Complex and Seizures “Knowledge is Power”"— Presentation transcript:

1 Tuberous Sclerosis Complex and Seizures “Knowledge is Power”
Stephen J. Thompson, MD Chief, Pediatric Neurology Director, Pediatric Neuro-Oncology Hackensack University Medical Center

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

3 How and Why? TCS1 (9q24) and TSC2 (16p13)
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-1
1998 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 Generalized Seizures
Trileptal, Vimpa,t etc… Generalized Seizures Keppra, Dilantin, Depakote, etc… Novel therapy Ketogenic Diet

12 Tumors in TSC: SEGA SEGA Location Presentation:
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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