BRAIN and NERVE－神経研究の進歩68巻2号

2016年02月発行

特集 筋疾患の認知機能障害

福山型先天性筋ジストロフィーの中枢神経障害

著者： 石垣景子¹

所属機関： ¹東京女子医科大学小児科

ページ範囲：P.119 - P.127

文献概要

福山型先天性筋ジストロフィーは，FKTN遺伝子の3kb挿入変異が原因であり，神経細胞移動障害による脳奇形と眼合併症が特徴である。典型的な頭部MRI所見は，丸石様皮質異形成，多小脳回・厚脳回であり，低年齢ではT₂強調画像・FLAIR画像で白質に高信号を認める。多くがIQ30〜50程度の中等症から重度の知的障害を呈する。痙攣の合併は6割以上にみられ，その2割弱が難治性てんかんで多剤での治療を要する。

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