Pediatric Surgery International

, Volume 19, Issue 11, pp 725–728 | Cite as

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

  • Fumiaki Toki
  • Norio Suzuki
  • Ken Inoue
  • Makoto Suzuki
  • Kyoko Hirakata
  • Kyoko Nagai
  • Minoru Kuroiwa
  • James R. Lupski
  • Yoshiaki Tsuchida
Original Article


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.


Intestinal aganglionosis Hirschsprung’s disease Waardenburg-Shah syndrome Neurocristopathy 


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Fumiaki Toki
    • 1
  • Norio Suzuki
    • 1
  • Ken Inoue
    • 2
  • Makoto Suzuki
    • 1
  • Kyoko Hirakata
    • 3
  • Kyoko Nagai
    • 4
  • Minoru Kuroiwa
    • 1
  • James R. Lupski
    • 2
  • Yoshiaki Tsuchida
    • 1
  1. 1.Department of SurgeryGunma Children’s Medical CenterHokkitsu, Seta-gun, Gunma 377-8577Japan
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.Division of OphthalmologyGunma Children’s Medical CenterGunmaJapan
  4. 4.Division of Oto-Rhino-LaryngologyGunma Children’s Medical CenterGunmaJapan

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