[Familial cavernous angioma. Report in 3 generations].
Cavernous angioma is a vascular malformation that affect 0.5 to 0.7% of the population making up 8 to 15% of cerebrovascular malformations. It is the second vascular malformation in frequency of the central nervous system, supplanted only by classic arteriovenous malformation. It may occur in two forms: a sporadic form characterized by isolated lesions: and a familial form characterized by multiple lesions with an autosomal dominant mode of inheritance with high penetrance and varied expressivity in the proportion M1:F1. Symptoms related to cavernous angioma are seizures, headache or progressive neurologic deficit. The authors present a Chinese family with familial cavernous angioma. Manifestations of the disease occurred in three generations affecting only females. Clinical, neuroimage, pathological, natural course and genetical aspects of the disease are discussed.
Fobe
J L
JL
Serviço de Neurocirurgia, AACD, São Paulo SP, Brasil.
de Lima
J B
JB
de Buone
M L
ML
Correa Neto
J
J
D000328:Adult; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D001933:Brain Stem / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D019292:Skull Base Neoplasms / Q000175:diagnosis / Q000235:genetics; D014057:Tomography, X-Ray Computed