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Neurology > Neurocutaneous disorders > Flashcards

Neurocutaneous disorders Flashcards

1
Q

Percentage of patient’s with NF who develop phaeochromocytoma?

A

~5%

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2
Q

Defining feature of NF2?

A

Bilateral acoustic neuromas

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3
Q

How is Tuberous Sclerosis inherited?

A

2/3 are new mutations

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4
Q

Clinical findings in tuberous sclerosis?

A 
Seizures (infantile spasms - intracerebral tubers)
Low IQ
Skin 
80% have ash leaf patches
75% have adenoma sebaceum
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5
Q

Inheritance of Neurofibromatosis?

A

AD (high rate of new mutations)

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6
Q

Inheritance of Tuberous Sclerosis Complex?

A

AD

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7
Q

Inheritance of von Hippel Lindau?

A

AD

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8
Q

Inheritance of incontinentia pigmenti?

A

X-linked dominant

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9
Q

Inheritance of Sturge Weber syndrome?

A

sporadic

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10
Q

What are the diagnostic criteria for NF1 includes two of more of? (6)

A 
Cafe au-lait spots
Skinfold freckling (axillary/inguinal)
Neurofibromas (2 or more) OR 1x plexiform neurofibroma
Iris Hamartomas (Lisch nodules)
Characteristic osseous lesion
Frist degree relative with NF1
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11
Q

What is the typical order of appearance in NF1?

A

cafe-au-lait, axillary freckling, Lisch nodules, neurofibromas

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12
Q

Which two genetic abnormalities have been found in TSC?

A

TSC1 (chr 9)

TSC2 (chr 16)

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13
Q

What are the major diagnostic features for tuberous sclerosis complex? (8)
Think skin, head, heart

A 
Skin features:
Facial angiofibromas
Ungal/periungal fibroma
Hypomelanotic macules
Shagreen patch
Brain:
Cortical tubers
Subependymal nodule/giant cell astrocytoma
Multiple retinal nodular hamartomas
Heart:
Cardiac rhabdomyoma
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14
Q

What are the minor diagnostic features for tuberous sclerosis complex?

A 
Dental enamel pits
Bone cysts
Hamartomatous rectal polyps
Gingival fibromas
Cerebral WM migration tracts
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15
Q

What is the classic triad of tuberous sclerosis complex?

A
  1. seizures
  2. intellectual disability
  3. facial angiofibroma
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16
Q

Why are there no male patients with incontinentia pigmenti?

A

They die in-utero: thus patients are all female

17
Q

What are the 3 stages of skin lesion in incontinentia pigmenti?

A

Stage 1: vesicular stage
Stage 2: Verrucous stage (resemble warts)
Stage 3: pigmented stage (whorled, swirled)

Neurology (11 decks)

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