Director Pediatric Neuro Oncology Hackensack University Medical Center Tuberous Sclerosis Complex and Seizures Knowledge is Power What is TCS Neurocutaneous disorder Neurologic structures and skin are derived from the same tissue in the embryo ID: 815977
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Slide1
Stephen J. Thompson, MDChief, Pediatric NeurologyDirector, Pediatric Neuro-OncologyHackensack University Medical Center
Tuberous Sclerosis Complex
and Seizures
“Knowledge is Power”
Slide2What is TCS?Neurocutaneous disorderNeurologic structures and skin are derived from the same tissue in the embryo
TSC:
Bourneville’s
Bisease
Skin,
b
rain, kidneys, heart…
Slide3How 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
Slide4TSC Diagnostic Criteria-11998 Consensus ConferenceMajor and Minor Criteria
A combination of findings is required
No one finding can make the diagnosis
Slide5TSC Diagnostic Criteria-2Definite 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
Slide6TSC: Major FeaturesFacial 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
Slide7TSC Minor FeaturesMultiple randomly distributed pits in dental enamelHamartomatous
rectal
polyps
Bone
cysts
Cerebral white matter migration
lines
Gingival
fibromas
Non-renal
hamartoma
Retinal
achromic
patch
"Confetti" skin lesions
Multiple renal
cysts
Slide8TSC Clinical IssuesSkinHeartKidneys
Lungs, and teeth
Brain and eyes:
Seizures
Cognitive/Academic/Developmental issues
Subependymal
nodules
SEGA
Headaches/Hydrocephalus
Slide9Seizures in TSCAge relatedInfantile spasmsLennox-
Gastaut
Syndrome
Partial complex
s
eizures
Generalized seizures.
Slide10Infantile Spasms1 in 2000 children overall but as many as 40% of children with TSCSpecific clinical presentation
Specific EEG findings
Treatment:
ACTH, oral corticosteroids
Zonegran
, Topamax
TSC
Vigabatrin
Slide11Other Seizures in TSCPartial complex seizuresTrileptal,
Vimpa,t
etc…
Generalized Seizures
Keppra
, Dilantin, Depakote, etc…
Novel therapy
Ketogenic
Diet
Slide12Tumors in TSC: SEGASEGASubependymal giant cell astrocytoma
Location
F
oramen of Monroe
Presentation:
Headaches
Hydrocephalus
Slide13SEGATreatmentSurgical resection
Chemotherapy
Novel agent, AFINITOR (
everolimus
)
mTOR
inhibitor
mTOR
is inactivated in TSC
AFINITOR can treat:
SEGA
AML
Adenoma
sebaceum
Seizures?
Slide14ResourcesTuberous Sclerosis Alliancewww.tsalliance.org
TS Center at NEREG/HUMC