[Dissecting aneurysm of the anterior cerebral artery with Rubinstein-Taybi syndrome--a case report]

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.