Hirschsprung’s Disease in Adults Revealed by an Occlusive Syndrome

Hirschsprung's disease (HD) in adults is rare, occurring before the age of five years in 90% of cases. It is characterized by the absence of ganglion cells in a colorectal segment, resulting in functional obstruction and an upstream colonic dilatation. HD should be considered in front of any history of chronic constipation. The diagnosis is based on a combination of clinical, manometric, radiological, and histological findings. Surgery is the basis of the treatment and consists of the resection of the aganglionic segment, followed by restoration of continuity between the two healthy segments. We report here the case of a 20-year-old man who presented to the ER with an occlusive syndrome, which initially required a loop colostomy for decompression. History, clinical presentation, and radiological findings were suggestive of HD, but additional diagnostic methods including manometry and biopsy were employed but proved negative. Given the available data, the patient underwent a colectomy with a latero-terminal ileorectal anastomosis. Histological findings of the surgical specimen confirmed the diagnosis of HD.