Children with clinical presentation of Hirschsprung's disease - a clinicopathological experience

Enteric neuronal abnormalities include Hirschsprung's Disease [HD], hypoganglionosis, intestinal neuronal dysplasia [IND Type A and B], and immaturity of ganglion cells. All of these are mostly present with the same clinical features of the HD. A total of 92 patients presented with the clinical features of HD were recruited to this study from two tertiary care Children Hospitals from March 2009 to October 2009. They either had their first presentation or called for definitive surgeries with clinical presentation of HD. After applying exclusion criteria, 84 patients were finally left for the study. Among 84 patients, 13 [15.5% proved to be normally ganglionic on rectal biopsies and 71 [84.5%] showed enteric neuronal abnormalities. In these, 51 [71.8%] children had Hirschsprung's disease, 9 [12.7%] revealed immaturity of ganglion cells [IGC], 9 [12.7%] belonged to isolated hypoganglionic group and 2 [2.8%] showed isolated IND type B. In HD group, M: F ratio was 4.1:1, mean age at diagnosis was 1.9 years and the presenting complaints were in the descending order i.e., abdominal distention, constipation, vomiting and delayed passage of meconium. Among the group that showed IGC, M: F ratio was 2: 1, mean age at diagnosis was 12 days of life. The presenting complaints were same as that in HD in a similar order. In isolated hypoganglionic group, M: F ratio was 3.5.: 1, mean age at diagnosis was 2.3 years. The presenting complaints included constipation [88.9%], abdominal distension [77.8%], vomiting [33.3%] and delayed passage of meconium [33.3%]. In isolated IND type B, both patients were males, they came with constipation, abdominal distension and vomiting whereas one of them had history of delayed passage of meconium. HD was the most common enteric neuronal abnormality. Other neuronal abnormalities included isolated hypoganglionosis, immaturity of ganglion cells and isolated hyperganglionos [IND Type B]. Most common presenting complaints were abdominal distension, constipation, vomiting and delayed passage of meconium in all the groups