The Neurocristopathy in a Newborn with Congenital Central Hypoventilation Syndrome, Hirschsprung's Disease and Ganglioneuroblastoma.
- Author:
Sung Eun JUNG
;
Dae Yeon KIM
;
Ki Hong KIM
;
Seong Cheol LEE
;
Kwi Won PARK
;
Woo Ki KIM
- Publication Type:Original Article
- Keywords:
Neurocristopathy;
Congenital Central Hypoventilation Syndrome;
Hirschsprung's disease;
Ganglioneroblasoma
- MeSH:
Anoxia;
Apnea;
Autopsy;
Brain;
Depression;
Female;
Ganglioneuroblastoma*;
Hirschsprung Disease*;
Humans;
Hypoventilation*;
Infant, Newborn*;
Jejunostomy;
Jejunum;
Laparotomy;
Neural Crest;
Oxygen;
Parturition;
Sepsis;
Ventilation
- From:Journal of the Korean Association of Pediatric Surgeons
1999;5(2):146-151
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Neurocristopathy is characterized as having a common origin in aberrant neural crest development. Congenital central hypoventilation syndrome (Ondine's curse) is characterized by marked depression of respiratory drive during sleep and normal ventilation while awake because of no response to both hypercapnea and hypoxia. The girl was full-term, weighing 3020 grams. The girl had poor respiratory effort at birth, but improved with oxygen supply and stimulation. abdominal distention and calcification were noted. During laparotomy transitional zone was found at distal jejunum; a jejunostomy was constructed. Numerous attempts at extubation failed because of apnea. The results of an apnea work-up, including brain sonography, echocardiogram, were normal. The girl died of sepsis at 37 days of age. para-aortic ganglioneuroblastoma was found on autopsy. We experienced a newborn with congenital central hypoventilation syndrome, Hirschsprung's disease and congenital ganglioneuroblastoma representative of neurocristopathy.
