Posterior fossa scintiangiography: documentation of genetic penetrance of von Hippel-Lindau syndrome in a clinically unaffected girl and her father.
The 16-year-old clinically normal daughter of a patient with the von Hippel-Lindau syndrome demonstrated a vascular posterior fossa lesion on scintiangiography that failed detection in delayed images. Contrast arteriography corroborated the presence of a hemangioblastoma. Noninvasive demonstration of the genetic penetrance of this disorder offers its victims an opportunity for low morbidity early surgical cure of the associated brain lesions.
D000293:Adolescent; D000328:Adult; D000798:Angiomatosis / Q000175:diagnosis*; D003388:Cranial Fossa, Posterior / Q000098:blood supply; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography; D011877:Radionuclide Imaging; D012886:Skull; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics