歌舞伎メーキャップ症候群の1症例

Kabuki Make-up Syndrome : A Case Report

　はじめに

　歌舞伎メーキャップ症候群は，1981年にNiika-waら^1）およびKurokiら^2）によって報告された先天性奇形症候群で，特異顔貌，骨格異常，皮膚紋理異常，精神発達遅滞，成長障害などを主徴としている。本症候群は種々の合併奇形を有することより各科から報告されており，耳鼻咽喉科領域においても難聴，平衡機能障害，粘膜下口蓋裂の報告^3〜5）がある。今回われわれは，歌舞伎メーキャップ症候群の1症例を経験し神経耳科学的検査を行う機会を得たので報告する。

A 13-year-old girl with Kabuki make up syn-drome presented with mental and physical retarda-tion, submucosal cleft palate, epileptic seizure and had complained of vertigo and hearing disturbance.Deafness of mixed type was noted in both ears. Eyetracking test (ETT) revealed a slight disturbance of smooth pursuit eye movements. Optokinetic nystagmus was markedly depressed, and bilateral canal paresis was found by caloric test. However, high resonance CT scan did not reveal any malfora-tion of the inner ear.

In conclusion, the functional impaiment in the central nervous system and the peripheral end organ in this case were assumed to appear in association with Kabuki make-up syndrome.