1. Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome
- Author
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Guillaume Aubertin, Chiara Sileo, Diana Rodriguez, Harriet Corvol, Stéphanie Valence, Nicole Beydon, Jessica Taytard, Plamen Bokov, Service de Pneumologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Radiologie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Service de physiologie, unité fonctionnelle d’explorations respiratoires [CHU Trousseau], Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Mucoviscidose: physiopathologie et phénogénomique [CRSA], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), and Gestionnaire, Hal Sorbonne Université
- Subjects
MESH: Kidney Diseases, Cystic ,Pulmonary and Respiratory Medicine ,Pediatrics ,medicine.medical_specialty ,MESH: Abnormalities, Multiple ,Central sleep apnea ,Cerebellar dysplasia ,Central apnea ,Case Reports ,Polysomnography ,Tachypnea ,central sleep apnea ,Joubert syndrome ,MESH: Magnetic Resonance Imaging ,children ,MESH: Child ,Female patient ,medicine ,MESH: Syndrome ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,MESH: Humans ,medicine.diagnostic_test ,business.industry ,MESH: Retina ,medicine.disease ,MESH: Eye Abnormalities ,Sleep in non-human animals ,MESH: Cerebellum ,respiratory tract diseases ,3. Good health ,Neurology ,MESH: Sleep Apnea, Central ,cerebellar dysplasia ,Neurology (clinical) ,medicine.symptom ,business ,MESH: Female ,tachypnea ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - 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. CITATION: Taytard J, Valence S, Sileo C, et al. Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome. J Clin Sleep Med. 2020;16(12):2113–2116.
- Published
- 2020