Journal
PEDIATRIC SURGERY INTERNATIONAL
Volume 19, Issue 11, Pages 725-728Publisher
SPRINGER
DOI: 10.1007/s00383-003-1057-7
Keywords
intestinal aganglionosis; Hirschsprung's disease; Waardenburg-Shah syndrome; neurocristopathy
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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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