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01.12.2003 | Original Article

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

verfasst von: Fumiaki Toki, Norio Suzuki, Ken Inoue, Makoto Suzuki, Kyoko Hirakata, Kyoko Nagai, Minoru Kuroiwa, James R. Lupski, Yoshiaki Tsuchida

Erschienen in: Pediatric Surgery International | Ausgabe 11/2003

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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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Titel: Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature
verfasst von: Fumiaki Toki
Norio Suzuki
Ken Inoue
Makoto Suzuki
Kyoko Hirakata
Kyoko Nagai
Minoru Kuroiwa
James R. Lupski
Yoshiaki Tsuchida
Publikationsdatum: 01.12.2003
Verlag: Springer-Verlag
Erschienen in: Pediatric Surgery International / Ausgabe 11/2003
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-003-1057-7

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