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
Externí odkaz: