Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome
| Autor: | Guillaume Aubertin, Chiara Sileo, Diana Rodriguez, Harriet Corvol, Stéphanie Valence, Nicole Beydon, Jessica Taytard, Plamen Bokov |
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| Přispěvatelé: | 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), Gestionnaire, Hal Sorbonne Université |
| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | Journal of Clinical Sleep Medicine Journal of Clinical Sleep Medicine, American Academy of Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩ J Clin Sleep Med Journal of Clinical Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩ |
| ISSN: | 1550-9397 1550-9389 |
| DOI: | 10.5664/jcsm.8784 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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