Neuro - Tuberous Sclerosis, Neurofibromatosis and Charcot-Marie-Tooth Flashcards
What is tuberous sclerosis? Name the two mutations responsible for the condition
- Autosomal dominant condition causing developing of hamartomas (benign neoplastic growths of the tissue they originate from
- Usually affect skin, brain, lungs, heart, kidneys, eyes
Genes involved
-TSC1, chromosome 9: codes for hamartin -
TSC2, chromosome 16: codes for tuberin
*Hamartin and tuberin interact with each other to control the size and growth of cells.
What are important signs to look for in a patient with tuberous sclerosis?
- Ash leafs spots: depigmented areas of skin that look like an ash leaf
- Shagreen patches: thickened, dimpled patches of skin
- Angiofibromas: small skill coloured or pigmented papeles on nose/cheeks
- Subungal/periungal fibromata: fibromas growing from nail bed - circular and painless and slowly displace the nail
- Cafe’ au lait spots: pigmented lesions on skin
- Poliosis: isolated patch of white hair in the head, eyebrows, eyelashes or beard
TS: What is this?
-Ash leafs spots: depigmented areas of skin that look like an ash leaf
TS: What is this?
-Subungal/periungal fibromata: fibromas growing from nail bed - circular and painless and slowly displace the nail
TS: What is this?
-Shagreen patches: thickened, dimpled patches of skin
TS: What are these?
-Angiofibromas: small skill coloured or pigmented papeles on nose/cheeks
What is this?
Poliosis: isolated patch of white hair in the head, eyebrows, eyelashes or beard
What are these?
-Cafe’ au lait spots: pigmented lesions on skin
What neurological features are present in tuberous sclerosis?
- Epilepsy
- Learning disability and developmental delay
What other features can be present in tuberous sclerosis?
- Rhabdomyomas in heart
- Gliomas
- Polycystic kidneys
- Retinal hamartomas
- Lymphangioleimyomatosis: abnormal growth in SM cells, usually affecting lungs
What is the management for tuberous sclerosis?
- No cure or treatment
- Monitor and treat underlying complications, eg epilepsy
What is neurofibromatosis? Name the types and genes involved
-Autosomal dominant condition that causes nerve tumours (neuromas) to develop throughout the nervous system. -Tumours are benign but cause neurological and structural problems.
Types
- type I: most common, associated with a tumour suppressor protein (neurofibromin) on chromosome 17
- type II: associated with protein (merlin) on chromosome 22
NFT1: name some criteria which are used for diagnosis
Need at least 2 of 7 to make diagnosis (CRABBING)
- C: cafe-au-lait spots
- R: relative with NF1
- A: axillary or inguinal freckles
- BB: bone dysplasia eg bowing of long bone or sphenoid wing dysplasia
- I: iris hamartomas (lisch nodules)
- N: Neurofibromas
- G: glioma of optic nerve
What are these these?
-GIioma of optic nerve
NF: What is this?
Iris hamartomas