Tuberous Sclerosis Flashcards
1
Q
What is the inheritence pattern of tuberous sclerosis?
A
AD
2
Q
What is the genetic defect in tuberous sclerosis?
A
TSC1 (protein product hamartin) at chromosome 9q34.3
TSC2 (protein product tuberin) at chromosome 16p13.3
3
Q
What are the associated medical findings with tuberous sclerosis?
A
1. Cortical brain tubers o Seizures 2. Subependymal nodules --> astrocytomas 3. Dermatologic: a) Ash leaf spots b) angiofibromas c) Shagreen patches d) Ungual fibromas 4. Retinal astrocytic hamartomas 5. Cardiac rhabdomyosarcomas o Most resolve spontaneously
4
Q
What are the developmental outcomes for tuberous sclerosis?
A
- Intellectual Disability (45-75%)
- Autism (50%)
- Learning disabilities
a) Memory impairment
b) Dyscalculia
c) Visuospatial distrubances
d) Dyspraxia
5
Q
What is the DDx for tuberous sclerosis?
A
- Vitiligo
- Pityriasis alba
- Cutaneous allergy to nickel jewelry
- Acne (facial angiofibromas of TS)
6
Q
What are the recommendations for tuberous sclerosis?
A
- CT/MRI at diagnosis
- Echocardiogram in infancy
- Renal US at diagnosis
- Peds Ophthalmology at diagnosis
- Early Developmental Evaluation
7
Q
What are the major clinical manifestations for Tuberous Sclerosis?
A
- Skin lesions: ash leaf spots, facial angiofibroma, shagreen patches, ungual fibromas
- Brain lesions (cortical tubers, subependymal nodules, seizures)
- Kidney lesions (angiomyolipomas, cysts)
- Heart lesions (rhabdomyomas)
8
Q
What are the diagnostic criteria for Tuberous sclerosis?
A
2 major OR 1 major and >2 minor features.
Genetic TSC1 or TSC2 Major Criteria: • >3 angiofibromas • >2 ungual fibromas • >3 hypomelanotic macules (@least 5mm in diameter) • shagreen patch • cortical dysplasias • subependymal nodules • multiple retinal hamartomas • cardiac rhabdomyoma • lymphangioleiomyomatosis (LAM) • >2 angiomyolipomas
Minor Criteria: • >3 dental enamel pits • >2 intra-oral fibromas • non-renal hamartomas • retinal achromic patch • "confetti" skin lesions • multiple renal cysts
