Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1 -Related Myopathies
| Autor: | Pierre Mauran, Mathilde Viprey, Fawzia Cheliout-Heraut, Pascal Sabouraud, Ha Trang, Michael Pomedio, Katia Bessaci-Kabouya |
|---|---|
| Přispěvatelé: | Recherche Clinique ville-hôpital, Méthodologies et Société (REMES), Université Paris Diderot - Paris 7 (UPD7), Université de Reims Champagne-Ardenne (URCA), American Memorial Hospital (Reims), Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Robert Debré Paris, Hôpital Robert Debré, dormoy, valerian |
| Rok vydání: | 2017 |
| Předmět: |
Male
Pulmonary and Respiratory Medicine Pediatrics medicine.medical_specialty Congenital muscular dystrophy Polysomnography [SDV]Life Sciences [q-bio] Muscle Proteins Case Reports Selenoprotein 03 medical and health sciences Sleep Apnea Syndromes 0302 clinical medicine Muscular Diseases medicine Humans Sleep disorder breathing Child Selenoproteins Myopathy ComputingMilieux_MISCELLANEOUS Early onset Noninvasive Ventilation integumentary system medicine.diagnostic_test business.industry medicine.disease 3. Good health [SDV] Life Sciences [q-bio] Sleep apnea syndrome 030228 respiratory system Neurology Sleep apnea syndromes Child Preschool Selenoprotein N1-related myopathies Mutation Sleep disordered breathing Female Noninvasive ventilation Neurology (clinical) medicine.symptom Respiratory insufficiency business 030217 neurology & neurosurgery Rare disease |
| Zdroj: | JCSM/Journal of Clinical Sleep Medicine JCSM/Journal of Clinical Sleep Medicine, 2017, 13 (09), pp.1105-1108. ⟨10.5664/jcsm.6734⟩ |
| ISSN: | 1550-9397 1550-9389 |
| DOI: | 10.5664/jcsm.6734 |
| Popis: | International audience; Selenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene (SEPN1) mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered breathing (SDB) may occur in young SEPN1-RM patients who are still able to walk. We report here the cases of two children with SEPN1-RM who presented with SDB at the ages of 7 and 12 years and for whom long-term nocturnal noninvasive ventilation yielded significant improvement. Based upon literature review and our current cases, it seems that there is no obvious relationship between time since SDB onset and outcome of pulmonary function tests or limb muscle weakness. We therefore suggest that sleep-disordered breathing should systematically be screened for in patients with SEPN1-RM, at regular intervals using nocturnal polysomnography. |
| Databáze: | OpenAIRE |
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