Case reports of congenital central hypoventilation syndrome

Neonatal Network : NN
Kim Marsh, Elizabeth Ehrhardt

Abstract

Congenital central hypoventilation syndrome (CCHS), which occurs in less than 1 in every 50,000 infants and children, is a rare syndrome first noted in literature by Mellins in 1970. Congenital central hypoventilation syndrome is a condition in which the patient loses the drive to breathe during deep sleep and can mimic many diseases. Until recently, CCHS has largely been a diagnosis of exclusion; fortunately, there is now a genetic test available to confirm the diagnosis. The purpose of this article is to discuss the steps taken to confirm the diagnosis of CCHS. In addition to the history of the disease and clinical manifestations, genetics and prognosis of children with CCHS will be discussed. Two cases are presented for illustration of hospital course and preparation for discharge.

References

Nov 26, 1999·Current Opinion in Pulmonary Medicine·D Gozal, R M Harper
Feb 18, 2004·Pediatric Pulmonology·Mary VanderlaanDavid Gozal
Apr 24, 2004·American Journal of Respiratory and Critical Care Medicine·Debra E Weese-Mayer, Elizabeth M Berry-Kravis
Jul 28, 2004·Paediatric Respiratory Reviews·Maida Lynn Chen, Thomas G Keens
Aug 5, 2006·American Journal of Respiratory and Critical Care Medicine·Elizabeth M Berry-KravisDebra E Weese-Mayer
Nov 6, 2007·Indian Journal of Pediatrics·P G SamdaniAkhil Goel
May 20, 2009·Seminars in Respiratory and Critical Care Medicine·Madeleine Grigg-Damberger, Audrey Wells
Aug 3, 2010·Journal of Korean Medical Science·Kyoung-Ah KwonSang-Hyoun Hwang

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