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

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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.

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Authors and Affiliations

  1. Department of Surgery, Gunma Children’s Medical Center, 779 Shimohakoda, Hokkitsu, Seta-gun, Gunma 377-8577, Japan

    Fumiaki Toki, Norio Suzuki, Makoto Suzuki, Minoru Kuroiwa & Yoshiaki Tsuchida

  2. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA

    Ken Inoue & James R. Lupski

  3. Division of Ophthalmology, Gunma Children’s Medical Center, Gunma, Japan

    Kyoko Hirakata

  4. Division of Oto-Rhino-Laryngology, Gunma Children’s Medical Center, Gunma, Japan

    Kyoko Nagai

Authors
  1. Fumiaki Toki
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  2. Norio Suzuki
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  3. Ken Inoue
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  4. Makoto Suzuki
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  5. Kyoko Hirakata
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  6. Kyoko Nagai
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  7. Minoru Kuroiwa
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  8. James R. Lupski
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  9. Yoshiaki Tsuchida
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Correspondence to Yoshiaki Tsuchida.

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Toki, F., Suzuki, N., Inoue, K. et al. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Ped Surgery Int 19, 725–728 (2003). https://doi.org/10.1007/s00383-003-1057-7

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  • DOI: https://doi.org/10.1007/s00383-003-1057-7

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