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Stephen J. Thompson, MD Chief, Pediatric Neurology Stephen J. Thompson, MD Chief, Pediatric Neurology

Stephen J. Thompson, MD Chief, Pediatric Neurology - PowerPoint Presentation

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Stephen J. Thompson, MD Chief, Pediatric Neurology - PPT Presentation

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

seizures tsc major minor tsc seizures minor major feature renal complex criteria mtor multiple subependymal skin features sclerosis tsc2

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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”

Slide2

What 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…

Slide3

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

Slide4

TSC Diagnostic Criteria-11998 Consensus ConferenceMajor and Minor Criteria

A combination of findings is required

No one finding can make the diagnosis

Slide5

TSC 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

Slide6

TSC: 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

Slide7

TSC 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

Slide8

TSC Clinical IssuesSkinHeartKidneys

Lungs, and teeth

Brain and eyes:

Seizures

Cognitive/Academic/Developmental issues

Subependymal

nodules

SEGA

Headaches/Hydrocephalus

Slide9

Seizures in TSCAge relatedInfantile spasmsLennox-

Gastaut

Syndrome

Partial complex

s

eizures

Generalized seizures.

Slide10

Infantile 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

Slide11

Other Seizures in TSCPartial complex seizuresTrileptal,

Vimpa,t

etc…

Generalized Seizures

Keppra

, Dilantin, Depakote, etc…

Novel therapy

Ketogenic

Diet

Slide12

Tumors in TSC: SEGASEGASubependymal giant cell astrocytoma

Location

F

oramen of Monroe

Presentation:

Headaches

Hydrocephalus

Slide13

SEGATreatmentSurgical resection

Chemotherapy

Novel agent, AFINITOR (

everolimus

)

mTOR

inhibitor

mTOR

is inactivated in TSC

AFINITOR can treat:

SEGA

AML

Adenoma

sebaceum

Seizures?

Slide14

ResourcesTuberous Sclerosis Alliancewww.tsalliance.org

TS Center at NEREG/HUMC