睡眠呼吸障害が診断の契機となったJoubert症候群の25歳男性例

Joubert Syndrome Diagnosed Based on Sleep-disordered Breathing in a 25-year-old Man―Case Report

はじめに

　Joubert症候群は小脳虫部の発生異常を病態の中核とする先天奇形であり，生下時の発作性多呼吸―無呼吸，眼球運動異常，運動失調，筋緊張低下，精神運動発達遅滞を特徴とする^1）。出生直後の発作性多呼吸―無呼吸は本症候群に特異的であり早期診断に重要であるが，加齢に伴い呼吸異常は軽減傾向を示すことも多く^2），他の症候は多彩であることから，成長後の本症候群患者を診断することはしばしば困難である。ここでは，覚醒時の呼吸異常の軽減後，睡眠時無呼吸を目撃されたことを契機に診断にいたったJoubert症候群（JS）の成人例を提示し，文献的考察とともに報告する。

Abstract

　A 25-year-old man was referred to our hospital because of repetitive cessation of breathing during sleep.　He had a history of longstanding ataxia, motor delay, and mental retardation and had been diagnosed with cerebral palsy.　Neurological examination revealed ataxia, general hypotonia and wide-based, shuffling gait.　Magnetic resonance imaging showed vermian aplasia and dilated fourth ventricle, consistent with Joubert syndrome.　Polysomnography revealed repetitive tachypnea followed by central apnea.　Tachypneic episodes were elicited by brief arousals.　Nasal continuous positive airway pressure eliminated neither tachypnea nor apnea.　This case indicates that a patient with Joubert syndrome may survive into adulthood and present as a case of sleep-disordered breathing.