多発性脳動静脈奇形および頭蓋骨血管腫を伴った局所性母斑症の1例

Regional Phacomatosis with Cerebral AVMs and Cavernous Hemangioma of the Skull Report of a Case

　多発性脳動静脈奇形の破裂による脳室内出血で発症し，後頭骨の血管腫，右側頭部の皮下静脈瘤，右上半身の色素沈着，牛眼，両足合指症，骨格ならびに筋形成の左右非対称（右＜左），脊柱側彎症など，多数の奇形を合併した症例を経験した。本症例は従来からの分類では局所性母斑症の一型と考えられたが，頭蓋内脈管異常を主体とする局所性母斑症は胎生期脈管形成異常から発生した一疾患単位と考えた方が理解しやすく，著者らは頭蓋内脈管異常を主体とした血管原性奇形の一群と捉えた。局所性母斑症では本症例のように頭部を中心とした血管原性奇形も考慮し，頭部CTやMRIなどを施行すべきである。

We report the coexistence of multiple arterio-venous malformations (AVMs) and hemangioma of the skull in a 38-year-old man with associated varicose veins in his scalp. The patient also had hypotrophy of all right limb tissues with skin pig-mentation and syndactyly of both feet. CT scans revealed intraventricular hemorrhage and a heman-gioma of the skull at the posterior fossa. Because of the location of the arteriovenous malformations, surgical evacuation and resection were not attempt-ed. The hemangioma was totally removed to decompress the posterior fossa.

A few cases of regional phacomatosis with intra-cranial AVMs have been reported, but we could not find a report of the coexistence of intracranial multiple AVMs and hemangioma of the skull with associated varicose veins of the scalp and skeletal hypotrophy. We discuss on the etiology of the coexistence of regional phacomatosis and heman-gioma and on the difference between our case and typical regional phacomatosis.