Tuberous Sclerosis Flashcards
0
Q
TS Diagnosis
A
Definite: 2 major or 1 major/2 minor criteria
Probable: 1major/1 minor criteria
Possible: 1 major or 2+ minor criteria
1
Q
TS Etiology
A
TS1 or TS2 gene mutation
code for proteins hamartin and tuberin
autosomal dominant
2
Q
TS Major Criteria
A
Adenoma Sebaceum Ungual/Periungual Fibromas 3+ Ash Leaf Spots Shagreen Patch Retinal Nodular Hamartomas Cortical Tuber Subependymal Nodule Subependymal Giant Cell Astrocytoma Cardiac Rhabdomyoma Lymphangiomyomatosis Renal Angiomyolipoma
3
Q
TS Minor Criteria
A
confetti skin lesions (1-2mm hypopigmented macules) multiple renal cysts retinal achromic patch nonrenal hamartomas gingival fibromas cerebral white matter radial migration lines bone cysts hamartomatous rectal polyps random dental enamel pits
4
Q
TS Complications
A
80% seizures
cognitive impairment, autistic features
*monitor for development of giant cell astrocytomas and angiomyolipomas
