title: [Late onset Ondine syndrome: literature review on a case report].
abstract: Ondine syndrome is the central congenital hypoventilation syndrome (CCHS) caused by the mutation of the PHOX2B gene. In late onset cases, the symptomatology often appears after an acute event (infection, general anesthesia, drug intake), increasing hypoventilation. We report a case of late onset Ondine curse in a 9-year-old girl. The diagnosis was made based on a hypercapnic coma complicating a respiratory infection caused by Mycoplasma pneumoniae and was confirmed by genetic testing. In the patient's history we found symptoms that had not been noted (e.g., enuresis, morning headache, adynamia), attesting to chronic hypoventilation. Through this observation, we review the literature on CCHS, notably late onset cases, which are rare and insidious, emphasizing the pre-existing hypoventilation symptoms in this child. This case underlines the need for all practitioners not to trivialize these symptoms so as to decrease the current delay in diagnosis for late onset CCHS and to introduce optimal care as soon as possible.
authors.affiliation: Service de pneumopédiatrie, hôpital Femme-Mère-Enfant, hospices civils de Lyon, 69677 Bron cedex, France.
authors.forename: M
authors.initials: M
authors.lastname: Butin
authors.forename: G
authors.initials: G
authors.lastname: Labbé
authors.forename: S
authors.initials: S
authors.lastname: Vrielynck
authors.forename: P
authors.initials: P
authors.lastname: Franco
authors.forename: B
authors.initials: B
authors.lastname: Massenavette
authors.forename: G
authors.initials: G
authors.lastname: Bellon
authors.forename: P
authors.initials: P
authors.lastname: Reix
mesh_terms: D020029:Base Pairing / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D006935:Hypercapnia / Q000175:diagnosis / Q000628:therapy; D011019:Pneumonia, Mycoplasma / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D017286:Polysomnography; D012121:Respiration, Artificial; D012151:Resuscitation; D012770:Shock, Cardiogenic / Q000175:diagnosis / Q000628:therapy; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors