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Understanding Tuberous Sclerosis Complex and Its Impact on Seizures

Tuberous Sclerosis Complex (TSC) is a neurocutaneous disorder affecting multiple organ systems, primarily the brain, skin, and kidneys. This condition, also known as Bourneville’s disease, arises from genetic mutations in TSC1 and TSC2, leading to abnormal cellular processes. TSC can manifest through various symptoms, including seizures, which affect approximately 40% of children with the disorder. Diagnosis relies on a combination of major and minor criteria, while treatment options include medications like vigabatrin and lifestyle approaches like the ketogenic diet.

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Understanding Tuberous Sclerosis Complex and Its Impact on Seizures

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  1. Tuberous Sclerosis Complexand 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 • 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) • 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-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 • Trileptal, Vimpa,t etc… • Generalized Seizures • Keppra, Dilantin, Depakote, etc… • Novel therapy • KetogenicDiet

  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 • www.tsalliance.org • TS Center at NEREG/HUMC

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