Familial glioblastoma with hepatic focal nodular hyperplasia.
Two siblings succumbed to glioblastoma multiforme, associated with hepatic focal nodular hyperplasia and cafe-au-lait spots. One sibling had syndactyly and multiple colonic polyps, while the other had an angiomatous malformation in the brain. Their mother died of myasthenia gravis. The findings suggest a hamartomatous syndrome of malformations that predisposes to brain tumors.
D000293:Adolescent; D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics*; D005260:Female; D005909:Glioblastoma / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia / Q000235:genetics / Q000473:pathology; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male