家族性中枢神経系海綿状血管腫—1家系の報告と文献的検討

Familial Cavernous Angioma of the Central Nervous System : report of a Family and Review of Literature

　比較的稀な中枢神経系海綿状血管腫の1家系を報告した。症例1は14歳少女で，右上肢の疹痛，しびれ感，脱力発作にて発症した。CTおよびMRIを施行後，大脳の2カ所の病変を摘出した。組織学的にいずれも海綿状血管腫（CA）であった。症例2は45歳で症例1の母であり，頭痛のために受診した。CT，MRIにて右頭頂葉と頸髄に各々1個CAを認めた。症例3は11歳で症例1の従姉妹であり，右上下肢の不全麻痺で発症した。CT施行後脳内の2カ所の病変を摘出した。組織学的にいずれもCAであった。3例ともに各々1個の皮下血管腫を認めた。我々の1家系を含めた家族性中枢神経系CAの詳細の明らかな文献報告24家系，70症例を検討し，その特徴について述べた。

In this paper we reported a familially occured cavernous angiomas (CA) of the central nervous system (CNS).

Case 1 was a 14-year-old female with an initial symptom of transient motor and sensory disorders of the right upper extremity. On examination she had a cutaneous angioma and no neurological deficit. CT and MRI revealed two lesions in the brain. These lesions were removed surgically and were diagnosed histologically as CA.

Case 2 was a 45-year-old female, the mother of case 1, with a long standing headache. She had a cutaneous angioma and no neurological deficit. CT and MRI revealed a CA in the brain and a one in the cervical cord.

Case 3 was an 11-year-old female, the cousin of case 1, with an initial symptom of left hemiparesis.

On examination, she had a cutaneous angioma and left hemiparesis. CT revealed two lesions in the brain. These lesions were removed surgically and were diagnosed histologically as CA.

Familial CA of the CNS is relatively rare and the reported cases were 24 families consisted of 70 cases. We analyzed the reported cases to clarify the specificities of the familial cases. In the familial cases, CAs were apt to be multiple and were located more frequently in the posterior fossa than in thenon-familial cases. In some familial cases, the vascular anomalies of the CNS other than CA or CA of the skin or retina were also revealed.

Because of high incidence (89%) of the hemor-rhage from the histologically verified CA, operation should be carried out even in the cases of CA with mild or no symptom, if the lesion is accessible surgically.