Skip-segment Hirschsprung’s disease: Report of a rare case and literature review

Abstract

We present an unusual case of skip-segment Hirschsprung’s disease, initially diagnosed with total colonic aganglionosis. A term newborn male presented with distal intestinal obstruction and underwent exploratory laparotomy at 3 days old after an ultrasound-guided contrast enema. Intra-operative frozen sections of full-thickness biopsies from each part of the colon and terminal ileum revealed no ganglion cells. Therefore, we performed a double-ended ileostomy. Although all final pathology reports confirmed the absence of ganglion cells, which were similar to those in the frozen sections, we were concerned about the problematic bowel because preoperative imaging (at 30 months of age) showed a dilated transverse colon. Therefore, we repeated the contrast enema, and the procedure showed a transition zone at the splenic flexure. An intra-operative frozen section of the normal caliber ascending colon was positive for ganglia in both layers, and then a pull-through operation with a protective ileostomy was performed. The final pathology report showed no ganglion cells in the rectum and transverse colon, whereas normal ganglion cells were observed in the sigmoid area. To date, approximately 30 cases of skip-segment Hirschsprung’s disease have been reported; therefore, this phenomenon is rare but important. All patients who do not present with a typical picture of Hirschsprung’s disease should be carefully evaluated, as the spectrum of this disease can alter the resected bowel length.