Neuro - Tuberous Sclerosis, Neurofibromatosis and Charcot-Marie-Tooth Flashcards

1
Q

What is tuberous sclerosis? Name the two mutations responsible for the condition

A
  • 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.

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2
Q

What are important signs to look for in a patient with tuberous sclerosis?

A
  • 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
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3
Q

TS: What is this?

A

-Ash leafs spots: depigmented areas of skin that look like an ash leaf

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4
Q

TS: What is this?

A

-Subungal/periungal fibromata: fibromas growing from nail bed - circular and painless and slowly displace the nail

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5
Q

TS: What is this?

A

-Shagreen patches: thickened, dimpled patches of skin

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6
Q

TS: What are these?

A

-Angiofibromas: small skill coloured or pigmented papeles on nose/cheeks

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7
Q

What is this?

A

Poliosis: isolated patch of white hair in the head, eyebrows, eyelashes or beard

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8
Q

What are these?

A

-Cafe’ au lait spots: pigmented lesions on skin

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9
Q

What neurological features are present in tuberous sclerosis?

A
  • Epilepsy
  • Learning disability and developmental delay
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10
Q

What other features can be present in tuberous sclerosis?

A
  • Rhabdomyomas in heart
  • Gliomas
  • Polycystic kidneys
  • Retinal hamartomas
  • Lymphangioleimyomatosis: abnormal growth in SM cells, usually affecting lungs
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11
Q

What is the management for tuberous sclerosis?

A
  • No cure or treatment
  • Monitor and treat underlying complications, eg epilepsy
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12
Q

What is neurofibromatosis? Name the types and genes involved

A

-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
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13
Q

NFT1: name some criteria which are used for diagnosis

A

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
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14
Q

What are these these?

A

-GIioma of optic nerve

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15
Q

NF: What is this?

A

Iris hamartomas

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16
Q

What is neurofibromatosis type II? Name the predominant features and management

A
  • 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
17
Q

Name some complications of NF

A
  • Migraines
  • Epilepsy
  • Renal artery stenosis: HTN
  • Scoliosis
  • Vision loss (2nd to glioma)
  • Malignant Peripheral nerve sheath tumours
  • Gastrointestinal stromal tumour
  • Brain tumour
18
Q

What is Charcot-Marie-Tooth?

A
  • 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
19
Q

Describe some classical features of CMT

A
  • 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
20
Q

How do you manage a pt with CMT?

A
  • 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
21
Q

Name some causes of peripheral neuropathy

A
  • A: alcohol
  • B: b12 deficiency
  • C: cancer and CKD
  • D: diabetes and drugs (isoniazid, amiodarone and cisplatin)
  • E: every vasculitis
22
Q
A