[Joubert syndrome diagnosed based on sleep-disordered breathing in a 25-year-old man--case report]

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.