Phankymytosis Flashcards

1
Q

what is inheritance pattern of sterge webber

A

not genetic - sixth week of development - incomplete vascular prexus involution

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2
Q

sugically- how are seizures controlled

A

hemispherectomy

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3
Q

what are associated tumor with VHL

A

retinal hemangioblastomas, pheochromocytomas,
clear cell renal carcinoma, endolymphatic sac
tumors, and pancreatic islet cell tumors

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4
Q

disgnosis of VHL

A

In a patient
with a positive family history, the diagnosis is made if a single
VHL-associated tumor is discovered. In the 20% of patients with
sporadic VHL, either two or more CNS or retinal hemangioblastomas
or a single hemangioblastoma and one other VHL-associated
neoplasm m ust be present.

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5
Q

what are associated chromosomes for HHT

A

9q, 12q, 5q, 18q, and 7p

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6
Q

clinical criteria for HHT

A

diagnosis is made with th e Curaçao criteria, which include
the presence of epistaxis, telangiectases, visceral lesions,
and family history

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