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First Aid Neurology > Neurocutaneous Disorders > Flashcards

Neurocutaneous Disorders Flashcards

1
Q

Activating mutation of GNAQ gene

A

Sturge-Weber Syndrome

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2
Q

Port-wine stain of face V1/2 distribution

A

Sturge-Weber Syndrome

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3
Q

Tuberous sclerosis

A

HEMARTOMAS
Hemartoma of CNS and Skin, Angiofibromas, Mitral Regurg, Ash-leaf spots, Cardiac Rhabdomyoma, Tuberous sclerosis autosomal dOminant, Mental retarded , renal Angiomyolipoma, Seizures, Shagreen Patches

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4
Q

Subependymal Astrocytomas and ungual fibromas

A

Tuberous sclerosis

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5
Q

Tram track calcium opposing gyri

A

Sturge-Weber Syndrome

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6
Q

IL leptomeningeal angioma causing seizures

A

Sturg-Weber Syndrome

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7
Q

Cafe-au-Lait spots

A

NF1, von Recklinghausen Dx

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8
Q

Chromosome 17

A

neurofibromatosis Type 1

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9
Q

Derivation of NF-1 skin tumors

A

Neural Crest cells

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10
Q

Ash-leaf spots

A

Tuberous sclerosis

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11
Q

Shagreen Patched

A

Tuberous Sclerosis

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12
Q

Lisch nodules

A

pigmented iris hamartoma associated with NF1

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13
Q

a negative regulator of Ras

A

neurofibromin (mutated in NF1)

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14
Q

cavernous hemangiomas in skin, humosa, organs

A

von Hippel-Lindau Dx

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15
Q

Chromosome 3

A

von Hippel-Lindau Dx; VHL tumor suppressor gene

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16
Q

BL renal cell carcinomas

A

von Hippel-Lindau Dx

17
Q

Consitutive expression of HIF

A

VHL mutation; von Hippel-Lindau Dx

18
Q

hemangioblastomas in retina, brainstem, cerebellum and pheochromocytomas

A

von Hippel-Lindau Dx

First Aid Neurology (16 decks)

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