脳・四肢に多発した家族性Cavernous angiomasの1例

Multiple and Familial Cavernous Angiomas in the Brain and Extremities: Case report

I．はじめに

　中枢神経系に発生する海綿状血管腫は比較的稀な血管奇形であるが，近年，神経放射線学的検査の進歩により，CTあるいは血管写上の特徴が明らかにされ^{1,5,20,21,23，25,29）}，出血，痙攣，進行性神経脱落症状などを呈するものとして重要視されてきた^{2,6-8,15,19）}．本血管奇形は頭蓋内多発例^{4,6,9,17,32,33）}，全身皮膚および諸臓器に多発例^{5,6，14,17,22,31）}，他の血管奇形との合併例^17,27,31）などがあり，系統的な血管奇形としての要素が強い．また稀ではあるが家族発生例の報告もある^{3,4,6,14,18,31）}．われわれは19歳，女性で，脳実質内および四肢に多発性海綿状血管腫があり，母方家系および同胞6人に同様皮下腫瘤を認めた症例を経験した．家族内発生は稀であり，その発生病理を考える上で重要と思われるので，文献的考察を加え報告する．

This is a case report of intracranial multiple cavernous angioma occurred in a member of a line-age of familial cavernous angioma. This lineage had manifested multiple small angiomata in the extremi-ties on seven members in her family.

The patient, somewhat retarded 19-year-old woman, was admitted to Fukuoka University Hospital because of convulsive seizure and headache occurred several months before admission. She had a large head and her IQ was 71. Bilateral mild hearing disturbance and a vascular anomaly in the left eyeground were noted. There were multiple hypodermic nodules on four extremities.