Multiple familial cavernous malformations evaluated over three generations with MR.
MR imaging was used to determine the presence or absence of cavernous malformations in three generations of family members. The presenting child (proband) had sustained a symptomatic hemorrhage. Multiple malformations were identified in his father, in an older sibling, and in an asymptomatic grandfather. The father's brother had died from cavernous malformation-related intracerebral hemorrhage. Increasing numbers of malformations were found with increasing patient age, suggesting that MR-apparent lesions may grow in number as a result of repetitive small hemorrhages over time.
Horowitz
M
M
Department of Neurological Surgery, Presbyterian University Hospital, University of Pittsburgh, School of Medicine, PA, USA.
Kondziolka
D
D
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012307:Risk Factors