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phakomatoses Flashcards

1
Q

melanocytic iris hamartomas

A

NF1 (Chr 17)

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2
Q

optic pathway glioma

A

NF1 (Chr 17)

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3
Q

optic pathway pilocytic astrocytomas

A

NF1 (Chr 17) aka gliomas

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4
Q

plexiform neurofibromas

A

NF1 (Chr 17) (s shaped)

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5
Q

cafe au lait spots

A

NF1 (Chr 17); 6 or more at least 5 or 15 mm

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6
Q

axillary/inguinal freckling

A

NF1 (Chr 17)

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7
Q

optic nerve sheath meningiomas

A

NF2 (Chr 22)

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8
Q

posterior sublenticular opacity

A

NF2 (Chr 22)

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9
Q

punched out retinal depigmentation

A

TS (Chr 9)

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10
Q

bilateral CN8 schwannomas

A

NF2 (Chr 22)

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11
Q

astrocytic retinal hamartoma

A

TS (Chr 9) look like mulberry

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12
Q

palpebral angiofibromas, colobomas, sectoral iris depigmentation

A

TS (Chr 9)

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13
Q

shagreen patch

A

TS (Chr 9)

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14
Q

ungual fibromas

A

TS (Chr 9)

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15
Q

subependymal nodules

A

TS (Chr 9)

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16
Q

cardiac rhabdomyoma

A

TS (Chr 9)

17
Q

hypomelanotic macules

A

TS (Chr 9)

18
Q

cortical dysplasia

A

TS (Chr 9)

19
Q

congenital glaucoma

A

Sturge Weber Syndrome

20
Q

choroidal hemangiomas

A

Sturge Weber Syndrome , catsup fundus - can have serous RD, CME

21
Q

retinal capillary hemangioma

A

VHL (Chr 3) (dilated tortuous vessel leading towards white circle spot)

22
Q

pheochromocytoma

A

VHL (Chr 3)

23
Q

RCC

A

VHL (Chr 3)

24
Q

pancreatic cysts

A

VHL (Chr 3)

25
conjunctival telangectasia
AT (Chr 11), Te11angectasia
26
oculomator apraxia, convergence abnormalities, nystagmus
AT (Chr 11), Te11angectasia
27
progressive skin lesions, retinal vascular occlusion, NV, absence of foveal pit, exudative/tractional RD
Incontinentia pigmenti XLD
28
psammoma bodies
meningiomas NF2
29
antoni A/antoniB
schwannomas (neurilemomas) in NF1
30
rosenthal fibers
optic nerve gliomas NF1
31
verocay bodies
schannomas (Antoni A)

okaps (6 decks)

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