Phankymytosis Flashcards
what is inheritance pattern of sterge webber
not genetic - sixth week of development - incomplete vascular prexus involution
sugically- how are seizures controlled
hemispherectomy
what are associated tumor with VHL
retinal hemangioblastomas, pheochromocytomas,
clear cell renal carcinoma, endolymphatic sac
tumors, and pancreatic islet cell tumors
disgnosis of VHL
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.
what are associated chromosomes for HHT
9q, 12q, 5q, 18q, and 7p
clinical criteria for HHT
diagnosis is made with th e Curaçao criteria, which include
the presence of epistaxis, telangiectases, visceral lesions,
and family history