Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome

• Published in: European journal of pediatric surgery Vol. 9; no. 6; p. 430
• Main Authors: Urushihara, N, Nakagawa, Y, Tanaka, N, Uemura, N, Yoshida, A
• Format: Journal Article
• Language: English
• Published: United States 01-12-1999
• Subjects: DNA Mutational Analysis; Female; Hirschsprung Disease - complications; Hirschsprung Disease - genetics; Humans; Infant, Newborn; Polymorphism, Single-Stranded Conformational; Respiration, Artificial; Sleep Apnea, Central - complications; Sleep Apnea, Central - genetics; Sleep Apnea, Central - therapy; Syndrome
• ISSN: 0939-7248
• DOI: 10.1055/s-2008-1072300

We report a female newborn with Ondine's curse and Hirschsprung's disease--neurocristopathic syndrome. The female infant required endotracheal intubation and mechanical ventilation due to apnea which developed soon after birth. She had abdominal distension with bilious vomiting. A barium enema revealed a caliber change at the rectum and rectal biopsies showed no ganglion cells. Colostomy was performed at the age of 17 days. Hypoxemia with hypercapnia was noted during her sleep, and tracheostomy was performed at the age of 55 days. In addition, deafness and pupillary autonomic dysfunction were observed. The definitive surgery for Hirschsprung's disease was performed at the age of 4 months. She is now 2 years old with normal growth but needs ventilator support at home. In this case, we detected no mutation in the RET gene and EDNRB gene.