遺伝性出血性毛細血管拡張症に合併したhigh-flow AVFの検討

High-Flow Arteriovenous Fistula of the Central Nervous System Associated with Hereditary Haemorrhagic Telangiectasia

Ⅰ．はじめに

　遺伝性出血性毛細血管拡張症（hereditary haemorrhagic telangiectasia：HHT）は，皮膚・粘膜の毛細血管拡張を特徴とする常染色体優性の遺伝性疾患である³⁾．全身の血管系に異常が出現し，中枢神経系にも動静脈奇形（arteriovenous malformation：AVM）を合併することが知られている⁸⁾．

　今回，われわれはHHTに合併した中枢神経動静脈瘻（arteriovenous fistula：AVF）の3例を経験し，いずれもhigh-flowな病変であった．1例は巨大なvarixを伴ったcerebral pial AVFであり，2例は脊髄perimedullary AVFである．Cerebral AVFの症例は，subarachnoid hemorrhage（SAH）で発症した脊髄AVF患児の実母であり，無症候であったがHHTを疑って施行したスクリーニング検査で偶然異常を指摘された．

　HHTの病態について触れ，特に中枢神経AVFとの関連について文献的考察を加え報告する．

　The authors reported three cases of high flow arteriovenous fistula (AVF) associated with hereditary haemorrhagic telangiectasia (HHT). The first case was a 9-month-old boy who presented with subarachnoid hemorrhage (SAH). Digital subtraction angiography (DSA) revealed a perimedullary AVF at the cervical spine and the fistula was successfully interrupted by transarterial embolization with no additional neurological deficits. The second case was his mother, a 29-year-old women. She also had history of epistaxis, so imaging screens of her central nervous system (CNS) were undertaken. MRI showed a giant intracerebral varix associated with a high-flow pial AVF. This patient was treated by surgery and postoperative CT angiography showed extinction of AVF completely. The third case was an 8-year-old girl with a family history of HHT. She presented with gradual progression of paraparesis, sensory disturbance in the bilateral lower extremities and bladder dysfunction. MRI disclosed a perimedullary AVF with a large varix at the L3/4 level. The AVF was successfully interrupted by transarterial embolization with platinum coils. Post-embolization DSA showed complete disappearance of the AVF.

　The existence of HHT must always be considered a possibility when AVF of the CNS is diagnosed.