title: Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP.
abstract: A 23-year-old woman with the mitochondrial encephalomyopathy NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) presented with symptoms of obstructive sleep apnea (OSA). An overnight polysomnogram (PSG) showed apnea, EEG slowing, and a paucity of sleep spindles. The patient had a tracheostomy for OSA, and 5 months later she had normal EEG patterns and marked clinical improvement. We propose that patients with mitochondrial encephalomyopathies should have sleep evaluations if the history suggests OSA.
authors.affiliation: Department of Pediatrics and Medicine, Mount Sinai School of Medicine, New York, NY, USA.
authors.forename: E
authors.initials: E
authors.lastname: Sembrano
authors.forename: G M
authors.initials: GM
authors.lastname: Barthlen
authors.forename: S
authors.initials: S
authors.lastname: Wallace
authors.forename: C
authors.initials: C
authors.lastname: Lamm
mesh_terms: D000328:Adult; D001259:Ataxia / Q000175:diagnosis*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis*; D018908:Muscle Weakness / Q000175:diagnosis*; D017286:Polysomnography; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D012890:Sleep / Q000502:physiology; D012891:Sleep Apnea Syndromes / Q000175:diagnosis / Q000601:surgery; D013577:Syndrome; D014139:Tracheostomy