Hirschsprung's Disease in Adults: Report of a Case and Review of the Literature

Abstract

Hirschsprung's disease in the adult is a rare and frequently misdiagnosed cause of long-standing refractory constipation. We report a case of Hirschsprung's disease in a 23-year-old man and review the literature. The patient had a history of chronic constipation that required daily enemas, since early infancy, but he had remained in good health until intestinal obstruction developed. As a subemergency operation, right transverse colostomy was performed, to relieve the constipation. Histological examination, by a biopsy, showed absence of ganglion cells in the myenteric plexus in the rectum. One year later, Ikeda's modification of the Duhamel procedure was successfully performed as definitive surgery. The postoperative course was uneventful, and complete resolution of the symptoms without complications has been confirmed by a 22-year follow-up. A review of 229 cases of adult Hirschsprung's disease in the literature suggested that the Duhamel procedure is the operation of choice because of the lower postoperative morbidity rate and better functional outcome.

Suaugusiųjų Hirschprungo ligos chirurginis gydymas subtotaline kolektomija: galima alternatyva

“…The term "adult HD" is controversial, because most often it's defined as disease in patients older than 10 years [4,5] although some other authors think that the term can be used only when patients are 18 or 19 years old [1,6]. The incidence of adult HD is unknown, but could represent 2% of chronic refractory constipation [3,7].…”

“…Symptoms are also masked by using laxatives and enemas [1][2]. There have been some cases when presentation of the disease was in adult life [5,8]. So it is still unclear whether adult HD is due to failure of diagnosis during childhood years or whether it is due to the late presentation of disease [2,9].…”

Hirschsprung's Disease in An Adult Male - An Unusual Presentation

“…Anuras et al [4] , in 1984 reported 4 cases with biopsy proven HD but only 2 had rectal narrowing. Recently Miyatomo [5] reported a 23 year old male with chronic constipation for whom semi emergency colostomy was made.…”

“…It is a rare pathology affecting about 1 in 5000 births and majority of the cases are diagnosed in the neonatal period [1] . It is a cause of bowel obstruction in children, but in rare circumstances, the disease is diagnosed in adulthood [2][3][4][5] .A diagnosis of adult HD is made when the patient is older than the age of 10 years at the time of diagnosis [5] . Only about 550 cases have been reported in English literature since 1950 [6] .…”

Adult Hirschsprung’s disease

“…Barium enema, which often is diagnostic in neonates, may be negative in adults due to the ultrashort segment of bowel involved. 4 The 43-year-old schizophrenic patient related a long history of constipation. On direct questioning, he recalled being diagnosed with Hirschsprung's disease as a child, but his parents never brought him for a follow-up.…”