Hirschsprung's disease, Ondine's curse, and neuroblastoma--manifestations of neurocristopathy.
The term neurocristopathy has been applied to the association of Hirschsprung's disease, Ondine's curse (Congenital Hypoventilation Syndrome) and congenital neuroblastoma. Eight newborns with Hirschsprung's disease and Ondine's curse are discussed. Five of these have been seen by the authors. The remaining three patients are reported in the literature. In six of the infants (5 of ours, 1 from the literature) total colonic aganglionosis was found. Congenital neuroblastoma was present in two of the infants. In infants presenting with Hirschsprung's disease (especially of the long segment type) and breathing difficulties, the presence of a neurocristopathy should be considered.
Roshkow
J E
JE
Department of Radiology, State University of New York Health Science Center at Brooklyn.
Haller
J O
JO
Berdon
W E
WE
Sane
S M
SM
D005260:Female; D006627:Hirschsprung Disease / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009447:Neuroblastoma / Q000151:congenital / Q000000981:diagnostic imaging*; D011859:Radiography; D012891:Sleep Apnea Syndromes / Q000151:congenital / Q000000981:diagnostic imaging*; D013577:Syndrome