Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
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.
Toki
Fumiaki
F
Department of Surgery, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu, Seta-gun, Gunma 377-8577, Japan.
Suzuki
Norio
N
Inoue
Ken
K
Suzuki
Makoto
M
Hirakata
Kyoko
K
Nagai
Kyoko
K
Kuroiwa
Minoru
M
Lupski
James R
JR
Tsuchida
Yoshiaki
Y
D015897:Comorbidity; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics; D006627:Hirschsprung Disease / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D055757:SOXE Transcription Factors; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000453:epidemiology* / Q000235:genetics
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors