Pitfalls in diagnosis and treatment of Hirschsprung's disease

Abstract

Abstract Background and purpose Hirschsprung's disease (HD) presents itself by delayed passage of meconium, neonatal bowel obstruction and/or chronic constipation. In 80% of cases the disease is diagnosed in the first year of life. Difficulties or misdiagnosing HD are infrequently met. The aim of this case series is to highlight the pitfalls in diagnosis and treatment of HD. Case presentation: case 1&2 A 4 and 6 months old ♂ were diagnosed as rectal perforation in the neonatal period and colostomy was performed. At the age of 4 and 6 months respectively they developed fecal fistula after colostomy closure. Revision of stoma was done and biopsy proved that both had aganglionic rectal biopsy. Abdominal PT was performed for both after 3 and 4 months. Case 3 A 5 years ♀ came with recurrent attacks of intestinal obstruction since the age of 1 year. Both plain X ray and contrast studies were inconclusive. Finally was diagnosed after a second exploration and histopathological biopsies with total colonic aganglionosis. Case 4 A 1.5 years old presented with neonatal intestinal obstruction. His preoperative gastrografen enema were inconclusive. He underwent surgical exploration at the age of 2 weeks ended with right transverse colostomy and multiple colonic and rectal biopsies proved to be aganglionic. Case 5 A 3 months old ♂ came with caecostomy construction because of caecal perforation during neonatal period. Although there was no histopathological report earlier about the colon but his current rectal biopsy was devoid of ganglion cells. Conclusions:High degree of suspicion with physician care plan and routine biopsy are essential in all non NEC neonatal perforation during exploration to avoid missing of HD.