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
What is neurofibromatosis type II? Name the predominant features and management
- Problems with merlin protein (chromosome 22), which codes for a tumour suppressor protein especially important in Schwann cells
- Leads to development of schwannomas
- Associated with bilateral acoustic neuromas (hearing loss, tinnitus, balance issues)
- Management is based on resection of accessible tumours
Name some complications of NF
- Migraines
- Epilepsy
- Renal artery stenosis: HTN
- Scoliosis
- Vision loss (2nd to glioma)
- Malignant Peripheral nerve sheath tumours
- Gastrointestinal stromal tumour
- Brain tumour
What is Charcot-Marie-Tooth?
- Autosomal dominant (majority of cases) disease that affects the peripheral motor and sensory nerves. Most cases are due to a dysfunction in the myelin or axons
- Sx usually appear by age 10 but onset can be delayed until 40 or later
Describe some classical features of CMT
- High foot arches (pes cavus)
- Distal muscle wasting (inverted champagne bottle legs) -Weakness in lower legs and loss of ankle dorsiflexion -Weakness in hands
- Reduced tendon reflexes
- Reduced muscle tone
- Peripheral sensory loss
How do you manage a pt with CMT?
- Refer to neurologist and geneticist for diagnosis
- PT: maintain strength and joint range of motion
- OT: help with activities of daily living
- Podiatrist
- Orthopods: correct disabling joints
Name some causes of peripheral neuropathy
- A: alcohol
- B: b12 deficiency
- C: cancer and CKD
- D: diabetes and drugs (isoniazid, amiodarone and cisplatin)
- E: every vasculitis
