Neurological Surgery 脳神経外科38巻7号

2010年07月発行

総説

Sturge-Weber症候群

著者： 菅野秀宣¹ 中西肇¹ 中島円¹ 肥後拓磨¹ 飯村康司¹ 下地一彰¹ 新井一¹

所属機関： ¹順天堂大学脳神経外科

ページ範囲：P.613 - P.620

Ⅰ．はじめに

　Sturge-Weber症候群（SWS）は稀な神経皮膚症候群の1つであるが，顔面および脳表の血管腫など特徴的な所見があるため，比較的認知度の高い疾患といえる．しかしながら，治療適応や治療方法になると曖昧になるのではないだろうか．SWSは静脈の発生障害に起因する血管性疾患である．皮質静脈の形成不全のために静脈うっ滞が生じ，脳血流が低下するという虚血性の病態を示す³⁰⁾．また，SWSでは75～90％にてんかん発作が生じる^8,41)．そのため，てんかん発作は重要な治療対象と考えねばならない．虚血性の疾患であるにもかかわらず，てんかんに対する治療を行っていくということが，治療に対する理解の混乱につながっていると思われる．

　われわれは，SWSについて以下のような病態仮説を考えている．血管腫下の脳皮質は虚血のため機能が低下していく．発達に伴い脳の血流需要は増加するが，静脈の灌流障害がある脳では血液供給が対応できないというミスマッチが生じた際にてんかん発作が起こる．てんかん発作が起こるとさらに血流不足が進み，脳機能低下，脳萎縮領域の拡大という悪循環に陥り，臨床的には精神運動発達遅滞が残る．そのため，治療は早期に脳機能と血流のuncouplingを改善させることが重要である．このuncouplingを助長するのがてんかん発作であるために，てんかん発作に対する治療が前面に位置してくる．

　治療介入の時期を決めるためには，MRIやSPECT，PETなどの画像診断，電気生理，小児発達検査など包括的な検討が必要である．本総説では，それらを検査，病態，治療に分け整理するとともに，今後の研究課題を確認する．

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