ArticleJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine2020
Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.
Article in Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- A case of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024Article
- Article
- Good outcome of tracheostomy in a COVID-19 child with Joubert syndrome-Case report.Clinical case reports · 2023Article
- Lesions causing central sleep apnea localize to one common brain network.Frontiers in neuroanatomy · 2022Article
- Polysomnographic predictors of abnormal brainstem imaging in children.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2021Article
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Authors and funding
8 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
noneWe 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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