Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience

Aisha Thwayb Almutairi

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Original Article

8 (

); 311-314

Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience

Aisha Thwayb Almutairi

Received: 2014-04-14, Published: 2014-10-20

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This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

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This article was originally published by Qassim University and was migrated to Scientific Scholar after the change of Publisher.

Abstract

Introduction: CCHS is a rare condition in which there is no respiratory response to hypoxia or hypercarbia during sleep in the absence of any lung or neuromuscular diseases or identifiable brainstem lesions. CCHS typically presents in the newborn period. Three cases with varying clinical presentations at the Pediatric ICU (PICU) at Prince Sultan Military Medical City (PSMMC) in Riyadh between 2008 and 2013 are reported. All cases involved sleep study findings that are typical of CCHS, and the diagnosis was confirmed by molecular genetic analysis.