[Familial occurrence of intracerebral cavernous angioma]

A case of familial occurrence of intracerebral cavernous angioma is reported. The patients were a mother and her eldest son, a 48-year-old woman and a 28-year-old man, respectively. The mother, a hypovascular mass in the right frontal lobe was excised surgically, and in the son a well demarcated mass in the left temporal lobe was extirpated. Pathological examination in each case revealed cavernous angioma. Familial occurrence of intracerebral cavernous angioma is extremely rare. In the literature, 8 cases of familial occurrence have been reported, including our case, and in three out of the 8 cases the lesions were histologically confirmed. To our knowledge, this is the first case in Japan in which the diagnosis was established by surgical specimen. Of 17 cases in 8 family lines, multiple occurrence was observed in 7 cases. The clinical manifestations of the disease appear mostly in a form of adult epilepsy or intracerebral hematoma, and rarely sudden death associated with intracerebral hematoma. At present, CT scanning is widely used for diagnosis of the disease, and the lesions are surgically curable if they are located at the accessible sites. Although there has been no evidence of genetic basis, it is interesting that there is familial occurrence. From this point of view, we should carefully check the family tree of such patients.