J Korean Assoc Pediatr Surg.  1999 Dec;5(2):146-151. 10.13029/jkaps.1999.5.2.146.

Neurocristopathy Combined with Congenital Central Hypoventilation Syndrome, Hirschsprung's Disease and Ganglioneuroblastoma in a Neonate

• Jung SE
• Kim DY
• Kim KH
• Lee SC
• Park KW
• Kim WK

• KMID: 2422182
• DOI: http://doi.org/10.13029/jkaps.1999.5.2.146

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.

Keyword

Neurocristopathy; Congenital Central Hypoventilation Syndrome; Hirschsprung's disease; Ganglioneroblasoma

MeSH Terms

Anoxia
Apnea
Autopsy
Brain
Depression
Female
Ganglioneuroblastoma*
Hirschsprung Disease*
Humans
Hypoventilation*
Infant, Newborn*
Jejunostomy
Jejunum
Laparotomy
Neural Crest
Oxygen
Parturition
Sepsis
Ventilation
Oxygen