Neurology - Tuberous Sclerosis Flashcards
What is tuberous sclerosis?
Autosomal dominant condition that affects multiple systems
Harmatomas are characteristic of TS
What are hamartomas?
Benign tissue growths that develop in tuberous sclerosis
Where do hamartomas commonly affect?
- Skin
- Brain
- Lungs
- Heart
- Kidneys
- Eyes
What causes tuberous sclerosis?
Mutations in either
TSC1 gene on chromosome 9 - Hamartin
TSC2 gene on chromosome 16 - Tuberin
What is the role of hamartin and tuberin?
They interact to control the size and growth of cells
What are the skin features of tuberous sclerosis?
- Ash leaf spots - depigmented areas
- Shagreen patches - thickened, dimpled, pigmented patches of skin
- Angiofibromas - small skin-coloured or pigemented papules over nose and cheeks
- Ungual fibromas - painless lumps that grow on the nail bed and displace the nail
- Cafe-au-lait spots
- Poliosis - isolated patch of white hair on the head, eyebrows, eyelashes or beard
What are the neurological features of tuberous sclerosis?
- Epilepsy
- Learning disability
- Brain tumours
What are other features of tuberous sclerosis?
- Rhabdomyomas in the heart
- Angiomyolipoma in the kidneys
- Lymphangioleiomyomatosis in the lungs
- Subependymal giant cell astrocytoma in the brain
- Retinal hamartomas in the eyes
What is the management approach for tuberous sclerosis?
Supportive management, monitoring and treating complications, particularly epilepsy
What medications may be used in certain circumstances for tuberous sclerosis?
mTOR inhibitors
- Everolimus
- Sirolimus
Can be used to suppress growth of brain, lung or kidney tumours
