title: Case reports of congenital central hypoventilation syndrome.
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.
authors.affiliation: Childrens Hospital and Medical Center, 8200 Dodge St., Omaha, NE 68114, USA. kmarsh@childrensomaha.org
authors.forename: Kim
authors.initials: K
authors.lastname: Marsh
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ehrhardt
mesh_terms: D003937:Diagnosis, Differential; D005819:Genetic Markers; D049673:History, 20th Century; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000266:history / Q000503:physiopathology; D007231:Infant, Newborn; D011379:Prognosis; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics / Q000266:history / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D005819:Genetic Markers; D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors