title: [A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia].
abstract: We report a case of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) with repeated apnea attacks dating from the patient's 12th year. We initially diagnosed them as obstructive apnea due to upper pharyngeal stenosis and laryngomalacia by polysomnography and laryngo-fiberscopy. However, reevaluation after one and a half years revealed that the boy had central and mixed apnea, as well as obstructive apnea. To date, few reports have been published on the causes of apnea attacks in ATR-X patients. We clinicians should therefore consider laryngomalacia as one cause of apnea attacks in ATR-X patients, and choose the appropriate therapy for a pattern of apnea that can change during its clinical course.
authors.affiliation: Department of Pediatrics, Osaka Saiseikai Nakatsu Hospital, Osaka.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Ebishima
authors.forename: Takako
authors.initials: T
authors.lastname: Misaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Owa
authors.forename: Takehiko
authors.initials: T
authors.lastname: Okuno
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Suehiro
mesh_terms: D001049:Apnea / Q000209:etiology / Q000235:genetics*; D002648:Child; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D055092:Laryngomalacia / Q000150:complications / Q000235:genetics*; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*