-
Neonatal network : NN · May 2012
Case Reports Historical ArticleCase reports of congenital central hypoventilation syndrome.
- Kim Marsh and Elizabeth Ehrhardt.
- Childrens Hospital and Medical Center, 8200 Dodge St., Omaha, NE 68114, USA. kmarsh@childrensomaha.org
- Neonatal Netw. 2012 May 1; 31 (3): 157-61.
AbstractCongenital 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.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..