Familial cavernous angiomas of the brain: observations in a four generation family.
A family with a history of cavernous angiomas of the brain was investigated by MRI. The disease was present in four generations of the family and is consistent with autosomal dominant inheritance. Among affected individuals, there was considerable variability in the extent of intraparenchymal cavernomas and neurological symptoms as a result of bleeding events. Three siblings manifested with seizures, two affected persons were symptom free at the time of investigation, and one sibling had neurological symptoms without certain correlation with cavernomas. The disease appeared to have an earlier onset in younger generations.
Steichen-Gersdorf
E
E
Department of Paediatrics, University of Innsbruck, Austria.
Felber
S
S
Fuchs
W
W
Russeger
L
L
Twerdy
K
K
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree