FAMILIAL CAVERNOUS HEMANGIOMA WITH ATYPICAL NEUROIMAGING

Three members of the same family were studied, all of whom had multipl e intracerebral cavernous angiomas for which a dominant autosomal inhe ritance was hypothesised. The proband suffered from headaches, and phy sical examination revealed evident right hemiparesis. The second case started with a hemorrhagic cerebral stroke and the third was asymptoma tic on neurological examination. Nuclear magnetic resonance (NMR), per formed in two of the three cases, showed lesions whose number and exte nt were not radiologically characteristic of cavernous angioma. A cere bral biopsy of the proband enabled the diagnosis to be made. Despite t he recent introduction of NMR, the nosological classification of famil ial forms can be difficult when the radiological lesions are atypical. In such cases, cerebral biopsy is not only a valid diagnostic aid, bu t is also indispensable for obtaining adequate genetic information.