HIRSCHSPRUNG’S DISEASE IN AN ADULT: A CASE REPORT

Abstract

Hirschsprung’s disease in the adolescents and adults is not a common diagnosis in our environment. However this may be as a result of misdiagnosis or late presentation as is the case with other causes of recurrent constipation in older age groups. We present a case of a 19-year old male who presented with recurrent episodes of constipation from infancy with none requiring any intervention except for the index presentation that lasted for 3 weeks with associated progressive abdominal distension. Diagnosis was made with a barium enema and full thickness rectal biopsy. He had staged procedures with an initial divided colostomy thereafter followed by a definitive Souave endorectal pull-through with a good short-term outcome.

Introduction

Hirschsprung’s disease, otherwise called congenital aganglionic megacolon is a disease commonly recognized in the newborn and infants. However, a few may be missed until adolescent period or even late adulthood. Common symptoms include delayed passage of meconium, recurrent constipation and failure to thrive in early childhood1^-6. Adult presentation usually includes recurrent constipation in most cases, requiring enema for relief of symptoms right from early childhood, growth retardation, asymmetrically distended abdomen with visible peristalsis. Few may present with symptoms in adulthood for the first time7,9. Diagnosis is confirmed when there is aganglionosis on H&E staining of a rectal biopsy. Staged surgical resection and subsequent re-anastomosis provide good outcome

Case Report

This is the case of a 19-year old male who presented to the A&E Department of Jos University Teaching Hospital, Jos, Nigeria with 3 weeks history of constipation associated with abdominal pain and progressive abdominal distension. He had had delayed passage of meconium at birth and was managed successfully with soap and water enema; since then had been having recurrent constipation relieved by same enema. Developmental milestones had been normal but he was much smaller than his other siblings – none of which had similar complaints. His chest and vital signs were normal but he had asymmetrically distended abdomen with visible peristalsis (figure 1).

Figure 1. Asymmetrically distended abdomen .

Barium enema showed dilated large bowel filled with inspissated feaces as well as the classical 3 zones of Hirschsprung’s on barium enema. He was promptly prepared and at laparotomy, the intra-operative findings were a dilated loop of colon with a diameter of 25cm filled with hard, inspissated faeces weighing 5.9 kg with a narrow intra-peritoneal rectum (figure 2a and figure 2b). He had a left sided divided transverse colostomy with resection of about 100 cm of distended large bowel. Submucosal biopsies were taken at the proximal and distal stomas and the intraperitoneal narrowed rectum. H&E staining of the rectal biopsies confirmed aganglionosis. He was discharged home on the 5^th postoperative day with a functional colostomy in situ. He had a definitive Souave endorectal pull-through 3 months later and has been followed up for 6 months with regular bowel motions and no complaints of fecal soilage or constipation.

Figure 2a. Grossly distended loop of colon filled with hard faeces.

Figure 2b . Megacolon with funnel shaped transition zone.

Discussion

Since the first reported adult case of Hirschsprung’s disease by Rosin et al in 19508, many more have been documented with a male preponderance, though few studies reported mainly female cases9,10. In a 50-year literature review by Masayuk et al11, the mean age at diagnosis was 24.1 years with a range of 10 - 73 years; half of the 229 cases were under 30 years of age as was the index case. In Africa, about 20- 40% were diagnosed in the neonatal period compared to more than 90% in the western world11. With the rarity of Hirschsprung’s disease in adults and the difficulty in diagnosis even in the western world, this explains why only few cases have been documented in Africa13,14,19. Most adult patients present with recurrent constipation relieved by enema and/or laxatives as in children14 but enterocolitis is not a common complication among adult patients16.The index patient did not have an episode of enterocolitis. This suggests the relatively benign course of the disease in adults, due to the involvement of a short or ultra-short segment of bowel.The gold standard for diagnosis is rectal biopsy showing aganglionosis in the myenteric plexus and hypertrophied nerve endings. Barium enema may show the classical 3 zones but for ultra-short segment variety, that may not be seen. Preferred treatment with least complications and good quality of life has been Duhamel’s endorectal pull-through11,17, 18. Similarly many authors have also reported good outcome with Souave endorectal pull through20, and thus the choice of Souve endorectal pull-through in the index patient who also had good outcome.

Conclusions

Adult Hirschsprung’s disease although uncommon is diagnosed with a high index of suspicion in a patient with recurrent constipation, history of delayed passage of meconium and aganglionosis on rectal biopsy. Staged resection and endorectal pull-through provide good outcome.