Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome - Sorbonne Université
Journal Articles Journal of Clinical Sleep Medicine Year : 2020

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

Abstract

We report the case of a female patient aged 12 years referred to our pediatric sleep unit with a history of central sleep apnea associated with transient episodes of tachypnea on polysomnography recordings. The patient was otherwise healthy, with no personal or family medical history, and had a normal physical and neuropsychological examination. Brain magnetic resonance imaging 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 report highlights the importance of performing brain magnetic resonance imaging in patients with central sleep apnea to study the cerebellum, beyond the brainstem area. Cerebellar malformations can be found even in the absence of any other neurological condition.
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Dates and versions

hal-03385764 , version 1 (19-10-2021)

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Jessica Taytard, Stéphanie Valence, Chiara Sileo, Diana Rodriguez, Plamen Bokov, et al.. Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome. Journal of Clinical Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩. ⟨hal-03385764⟩
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