Pediatric Surgery International

, Volume 19, Issue 11, pp 725–728

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

Authors

  • Fumiaki Toki
    • Department of SurgeryGunma Children’s Medical Center
  • Norio Suzuki
    • Department of SurgeryGunma Children’s Medical Center
  • Ken Inoue
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • Makoto Suzuki
    • Department of SurgeryGunma Children’s Medical Center
  • Kyoko Hirakata
    • Division of OphthalmologyGunma Children’s Medical Center
  • Kyoko Nagai
    • Division of Oto-Rhino-LaryngologyGunma Children’s Medical Center
  • Minoru Kuroiwa
    • Department of SurgeryGunma Children’s Medical Center
  • James R. Lupski
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Department of SurgeryGunma Children’s Medical Center
Original Article

DOI: 10.1007/s00383-003-1057-7

Cite this article as:
Toki, F., Suzuki, N., Inoue, K. et al. Ped Surgery Int (2003) 19: 725. doi:10.1007/s00383-003-1057-7

Abstract

The authors report two cases of the rare concurrence of intestinal aganglionosis and Waardenburg syndrome in Japanese infants. The patients were a 1-month-old girl and a 3-month-old boy at diagnosis, and both of them had either short segment or ultra-short segment aganglionosis. A review of 48 cases in the literature showed that the extent of the aganglionic segment is quite variable, from nearly total to ultra-short. The clinical features of aganglionosis in Waardenburg syndrome would appear to bear similarity in sex ratio and the extent of aganglionosis with those of Hirschsprung’s disease associated with Ondine’s curse, another type of neurocristopathy.

Keywords

Intestinal aganglionosisHirschsprung’s diseaseWaardenburg-Shah syndromeNeurocristopathy

Copyright information

© Springer-Verlag 2004