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, MDChief, Pediatric NeurologyDirector, Pediatric Neuro-OncologyHackensack University Medical Center
2 What is TCS? Neurocutaneous disorder TSC: Neurologic structures and skin are derived from the same tissue in the embryoTSC:Bourneville’s BiseaseSkin, brain, kidneys, heart…
3 How and Why? TCS1 (9q24) and TSC2 (16p13) HamartinTSC2TuberinmTORInvolves abnormal cellular differentiation, proliferation, and migrationCan affect every organ system in the body1 of 10,000
4 TSC Diagnostic Criteria-1 1998 Consensus ConferenceMajor and Minor CriteriaA combination of findings is requiredNo one finding can make the diagnosis
5 TSC Diagnostic Criteria-2 Definite TSC:Either 2 major features or 1 major feature with 2 minor featuresProbable TSC:One major feature and one minor featurePossible 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 fibromaHypomelanotic macules (more than three)Shagreen patch (connective tissue nevus)Multiple retinal nodular hamartomasCortical tuberSubependymal noduleSubependymal giant cell astrocytomaCardiac rhabdomyoma, single or multipleLymphangiomyomatosisRenal angiomyolipoma
7 TSC Minor Features Multiple randomly distributed pits in dental enamel Hamartomatous rectal polypsBone cystsCerebral white matter migration linesGingival fibromasNon-renal hamartomaRetinal achromic patch"Confetti" skin lesionsMultiple renal cysts
8 TSC Clinical Issues Skin Heart Kidneys Lungs, and teeth Brain and eyes:SeizuresCognitive/Academic/Developmental issuesSubependymal nodulesSEGAHeadaches/Hydrocephalus
9 Seizures in TSC Age related Infantile spasms Lennox-Gastaut Syndrome Partial complex seizuresGeneralized seizures.
10 Infantile Spasms1 in 2000 children overall but as many as 40% of children with TSCSpecific clinical presentationSpecific EEG findingsTreatment:ACTH, oral corticosteroidsZonegran, TopamaxTSCVigabatrin
11 Other Seizures in TSC Partial complex seizures Generalized Seizures Trileptal, Vimpa,t etc…Generalized SeizuresKeppra, Dilantin, Depakote, etc…Novel therapyKetogenic Diet
12 Tumors in TSC: SEGA SEGA Location Presentation: Subependymal giant cell astrocytomaLocationForamen of MonroePresentation:HeadachesHydrocephalus
13 SEGA Treatment Surgical resection Chemotherapy Novel agent, AFINITOR (everolimus)mTOR inhibitormTOR is inactivated in TSCAFINITOR can treat:SEGAAMLAdenoma sebaceumSeizures?
14 Resources Tuberous Sclerosis Alliance TS Center at NEREG/HUMC TS Center at NEREG/HUMC