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Case Reports
. 2011 Mar-Apr;18(2):87-9.
doi: 10.1155/2011/989741.

Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome

Reshma Amin  1 , Andrea Riekstins, Suhail Al-Saleh, Colin Massicotte, Allan L Coates, Ian MacLusky
Affiliations
Case Reports

Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome

Reshma Amin et al. Can Respir J. 2011 Mar-Apr.

Abstract
in English, French

Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.

Le syndrome d’hypoventilation centrale congénitale est un trouble génétique rare caractérisé par de l’hypoventilation pendant le sommeil, secondaire à une réponse émoussée à l’hypercapnie et à l’hypoxie. Le présent rapport de cas décrit des jumeaux monozygotes de 4 ans de sexe masculin, normaux sur le plan du développement qui, pendant la première enfance, avaient un syndrome d’hypoventilation centrale congénitale de présentations et de gravité clinique variables. Tous deux ont été traités au moyen d’une ventilation à pression positive non effractive.

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