Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.

We report the case of a 12-year-old girl referred to our pediatric sleep unit with a history of central sleep apnea (CSA), associated to transient episodes of tachypnea on polysomnography recordings. The patient was otherwise healthy, with no personal or family medical history, and had normal physical and neuropsychological examination. Brain magnetic resonance imaging (MRI) showed signs of cerebellar vermis dysplasia, but without the classical features of the molar tooth sign. The rest of the workup (genetic tests, blood tests, cardiac investigations) was normal, except for an increased peripheral chemosensitivity to carbon dioxide and oxygen. The patient was successfully treated with bilevel positive airway pressure. This case highlights the importance of performing a brain MRI in case of CSA in order to study the cerebellum, beyond the brainstem area. Cerebellum malformations can be found even in the absence of any other neurological condition.