Hirschsprung disease with debut in adult age as acute intestinal obstruction: case report

Abstract

Hirschsprung's disease is characterized by absence of ganglion cells in submucosal and myenteric plexus of distal bowel. Most cases become manifest during the neonatal period, but in rare instances, this disease is initially diagnosed in adult age. It usually presents as severe constipation with colonic dilatation proximal to the aganglionic segment. The treatment is surgical, removing the aganglionic segment and restoring continuity of digestive tract. The disease rarely presents as an acute intestinal obstruction. We report a case not previously diagnosed, which presented as a massive colonic dilatation with a maximum diameter of 44 cm, with imminent risk of drilling that forced to perform an emergency surgery. We include a review of existing literature.

Adult Hirschsprung disease as acute intestinal obstruction: a case report

“…(1950); the patient was a 54-year-old male with a short aganglionic segment [ 12 , 13 ]. HD incidence is around 1 in 5,000 live births and is often present in the neonatal period [ 4 ]. It can occur alone or in combination with other developmental disorders.…”

“…In our case, the patient has no familial history or symptoms of Down syndrome. The incidence of adult HD is only 300 cases before 2016 [ 6 , 10 ], with males predominating over females (4: 1) [ 4 , 8 ]. The ages of adult HD patients range from 14 to 70 years, with an average age of 23.9 years.…”

“…However, the disease was eponymously named after Harald Hirschsprung at the German Pediatric Society conference in Berlin (1886), where Hirschsprung presented cases of two infants who died of complications due to intestinal obstruction [ 2 , 3 ]. HD, another name for congenital aganglionic megacolon, is a disorder characterized by the absence of ganglion cells in the submucosal plexus and myenteric in the bowel segment, which produces a functional obstruction and proximal dilatation of the affected segment [ 4 , 5 ]. Most HD cases are recognized in newborns or infants, but some cases of a milder form can only be identified in teenagers and adults [ 6 ].…”

Hirschsprung’s Disease in Adults Revealed by an Occlusive Syndrome

“…Barium enema and CT scan show colonic dilatation, a narrowing image matching with the aganglionic zone, and eliminate other causes of chronic constipation [9][10]. Endoscopic examinations; mainly anorectal manometry shows an absence of anorectal inhibitory reflex [7][8][9][10][11].…”

“…In newborns, bilious emesis, abdominal distension, and delayed meconium emission are the main symptoms [ 6 ]. In adults, authors suggest that the delayed onset of symptoms, which are usually minimal, may be explained by the fact that the aganglionic segment is short or ultra-short [ 7 ], making it difficult to diagnose HD in adults. A history is an important tool for the diagnosis.…”