前大脳動脈解離性動脈瘤を合併したRubinstein-Taybi症候群の1例

Dissecting Aneurysm of the Anterior Cerebral Artery with Rubinstein-Taybi Syndrome : A Case Report

はじめに

　Rubinstein-Taybi症候群（Rubinstein-Taybi syndrome：RTS）は成長障害，特徴的顔貌，幅広い母趾，精神発達遅滞を特徴とする先天性奇形として知られている。常染色体優性遺伝であり責任遺伝子がCREB（cAMP response element-binding）結合蛋白遺伝子であることが判明している^1－3）。これまで眼科的異常，先天性心奇形などのさまざまな合併症が報告されているが^4），頭蓋内動脈解離の合併の報告はなく，今回われわれはRTSに前大脳動脈解離性動脈瘤を合併した1例を経験したので報告する。

Abstract

　The Rubinstein-Taybi syndrome (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation.　RTS displays an autosomal dominant inheritance pattern and is typically caused by cAMP response element-binding (CREB)-binding protein deficiency.　Various complications such as eye anomalies and a variety of congenital heart defects are reported in such cases.

　We treated an RTS patient who had a dissecting aneurysm of the anterior cerebral artery.　The patient was a 44-year-old man who was brought to our hospital because of sudden left hemiplegia.　Magnetic resonance images showed a cerebral infarction caused by anterior cerebral artery dissection.　Coil embolization was performed on enlargement of the dissecting aneurysm, and the procedure was successful.

　Conclusion: RTS may be accompanied by cerebrovascular disease.

(Received：October 13,2009,Accepted：May 24,2010)