Hirschsprung’s disease in adults − two case reports and review of the literature

Abstract

Hirschsprung’s disease (HD) in adults is extremely rare, only three publications in Czech and Czechoslovak journals making reference to the condition after childhood. We present two cases of adult patients with HD.
The first case is a 46-year-old male patient suffering from chronic constipation since childhood and diagnosed with megacolon at the age of 16; however, no further detailed diagnosis was done. At the age of 41, he developed a sigmoid perforation due to fecaloma and underwent urgent rectosigmoid resection and colostomy. 5 months later, Swenson’s coloanal anastomosis with diverting ileostomy was performed. Postoperative course was uneventful. He has two bowel movements a day. 7 years after the Swenson’s procedure, he also underwent adhesiolysis for acute bowel obstruction. His daughter was operated on due to HD at 16 days of age.
The second case is a 57-year-old male patient. He suffered from chronic constipation and megacolon since 2 years of age and was diagnosed with congenital megacolon at the age of 19. However, no detailed diagnostics followed. He had a long interval between stools of up to 14 days. He underwent colonoscopy and, with a diagnosis of resistant Crohn’s disease, was referred to a surgical department where he was diagnosed with HD. Left hemicolectomy was first performed, followed by Swenson’s procedure with diverting ileostomy. All postoperative courses were uneventful. Currently he passes one or two soft stools a day. Adult HD is extremely rare. However, adult surgeons should consider it in case of refractory constipation since childhood associated with megacolon. Diagnosis is based on contrast radiography and rectal biopsy. Both Swenson’s and Duhamel’s procedures are suitable for surgical management. Left hemicolectomy with colonic rotation and coloanal anastomosis and/or proctocolectomy with J-pouch anastomosis are indicated in advanced forms of non-functional megacolon.