Neurology Flashcards
1
Q
How is TS inherited and what are the most common genetic mutations seen?
A
Autosomal dominant inheritance
TSC1 and TSC2 gene mutations
Majority of mutations are sporadic
2
Q
What are the dermatological features of TS?
A
‘Ash leaf’ spots
Shagreen patches
Facial angiofibromas
Subungal fibromas (in adolescence)
3
Q
What are the common neurological lesions in TS?
A
Glioneuronal Hamartomas (cortical tubers)
Subependymal nodules
Subependymal Giant Cell Astrocytomas
4
Q
What are the possible complications of Supependymal Giant Cell Astrocytomas?
A
Can cause blockage of CSF and hydrocephalus
5
Q
Renal Angiolipomas can develop in TS, what can these progress to?
A
Renal Cell Carcinoma
