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Archives de pédiatrie
Volume 19, n° 11
pages 1205-1207 (novembre 2012)
Doi : 10.1016/j.arcped.2012.08.015
Received : 24 April 2012 ;  accepted : 22 August 2012
Syndrome d’Ondine à révélation tardive : revue de la littérature à propos d’un cas
Late onset Ondine syndrome: Literature review on a case report

M. Butin a, G. Labbé a, S. Vrielynck a, P. Franco b, B. Massenavette c, G. Bellon a, P. Reix a,
a Service de pneumopédiatrie, hôpital Femme–Mère-Enfant, hospices civils de Lyon, 69677 Bron cedex, France 
b Service d’explorations fonctionnelles du sommeil, hôpital Femme–Mère-Enfant, hospices civils de Lyon, 69677 Bron cedex, France 
c Service de réanimation pédiatrique, hôpital Femme–Mère-Enfant, hospices civils de Lyon, 69677 Bron cedex, France 

Auteur correspondant. Service de pédiatrie, pneumologie, allergologie, centre de référence de la mucoviscidose, 59, boulevard Pinel, 69677 Bron, France.

L’hypoventilation alvéolaire centrale congénitale (HACC) ou syndrome d’Ondine est secondaire à des mutations du gène PHOX2B . Les formes tardives sont exceptionnelles et le plus souvent diagnostiquées lors d’un évènement aigu majorant l’hypoventilation. Nous rapportons un cas d’HACC à révélation tardive chez une enfant de 9ans pour laquelle le diagnostic avait été évoqué (puis confirmé génétiquement) suite à un coma hypercapnique compliquant une pneumopathie à Mycoplasma pneumoniae . Un certain nombre d’éléments cliniques présents chez cette enfant (énurésie, céphalées matinales, adynamie) aurait dû faire réaliser des examens complémentaires simples, qui malgré sa rareté, auraient pu orienter vers ce diagnostic.

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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.

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