Neurocutaneous Disorders Flashcards

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1
Q

What disorder has capillary malformations and port wine stains?

A

Sturge-Weber syndrome

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2
Q

What are the features of Sturge-Weber syndrome?

A
  • Cap malformations: Port-wine stain
  • Ipsilateral leptomeningeal angioma w calcifications
  • Episcleral hemangioma
  • Early-onset glaucoma
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3
Q

What neurocutaneous disordrer is not inherited in an AD pattern?

A

Sturge-Weber
- Somatic mosaicism

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4
Q

What gene is affected in Sturge-Weber?

A

Somatic mosaicism of an activating mutation in one copy of the GNAQ gene

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5
Q

What is Sturge-Weber syndrome also known as?

A

Encephalotrigeminal angiomatosis

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6
Q

What gene mutations cause Tuberous Sclerosis?

A
  • TSC 1
  • TSC 2
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7
Q

What chromosome is TSC1 on?

A

chromosome 9

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8
Q

What chromosome is TSC2 on?

A

chromosome 16

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9
Q

What protein is coded for by TSC1?

A

Hemartin

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10
Q

What protein is coded for on TSC2?

A

Tuberin

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11
Q

What are the symptoms of Tuberous sclerosis?

A
  • Hamartomas in CNS and skin
  • Angiofibromas
  • Mitral regurg
  • Ash-leaf spots
  • Cardiac rhabdomyomas
  • Intellectual disability
  • Renal angiomyolipoma
  • Srizures
  • Shagreen patches
  • Incr incidence of subependymal giant cell astrocytomas and ungual fibromas
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12
Q

What neurocutaneous disorder has 100% penetrance?

A

Neurofibromatosis type 1

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13
Q

What gene is mutated in Neurofibromatosis type 1
What chromosome is it located on?

A
  • NF1 (tumour suppressor gene)
  • Chromosome 17
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14
Q

What does NF1 code for?

A

Neurofibromin a negative RAS regulator

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15
Q

What are the symptoms of Neurofibromatosis type 1?

A
  • Cafe au lait spots
  • Intellectual disability
  • Cutaneous neurofibromas
  • Lisch nodules (pigmented iris hamartomas)
  • Optic gliomas
  • Pheochromocytomas
  • Seizures / focal neurologic signs (often from meningiomas)
  • Bone lesions (sphenoid dysplasia)
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16
Q

What done NF2 code for?

A

Merlin

17
Q

What chromosome is NF2 gene located on?

A

22

18
Q

What are the symptoms of NF type 2?

A
  • Bilateral vestibular schwannomas
  • Juvenile cataracts
  • Meningiomas
  • Ependymomas
19
Q

What neurocutaneous disorder contains neurofibromas?

A

NF1

20
Q

What gene mutation causes Von Hippel-Lindau disease?

A

Deletion of VHL gene

21
Q

What chromosome is the VHL gene located on?

A

3p

22
Q

What does VHL do?

A

Ubiquinates hypoxia-inducible factor 1a

23
Q

What are the symptoms of VHL disease?

A
  • Hemangioblastomas in brainstem, cerebellum and spine
  • Angiomatosis bilateral
  • RCC
  • Phaeochromocytomas
    HARP
24
Q

What do hemangioblastomas look like on histology?

A

High vascularity with hyperchromatic nuclei

25
Q

What is Recklinghausen disease also known as?

A

Neurofibromatosis type 1