Adult Hirschsprung's Disease Diagnosed During Forensic Autopsy

Abstract

We report a case of fatal Hirschsprung's disease (HD) discovered at autopsy. A 20-year-old man collapsed at home. Emergency medical personnel found him in cardiac arrest and all resuscitative efforts failed. He had a past history of chronic constipation since infancy. Forensic autopsy revealed a megacolon full of gas and stools. Microscopic examination showed absence of ganglion cells in a short segment of the rectum and enterocolitis in the left and transverse colon. HD is rarely described in adults. In many cases, patients complained of constipation since infancy but the affection remained misdiagnosed. The relative good tolerance of the disease is usually due to a short aganglionic bowel segment. Enterocolitis is a frequent and severe complication of HD in children but is rarely described in adults. This case suggests the importance of HD diagnosis in childhood in order to avoid fatal complications with forensic consequences.

The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease

“…Because of the possibility of subclinical HAEC, Teitelbaum [27] suggested a histologic grading system for HAEC as a useful method for early detection of infants at risk. Hirschsprung's disease-associated enterocolitis remains a significant cause of morbidity and mortality in HSCR [3,7], which may even extend into the adult years [28]. It appears no less dangerous in its subclinical form, with Marty et al [1] reporting fatal postoperative enterocolitis in 5 children with fairly mild clinical symptoms 3 weeks to 20 months after uncomplicated HSCR surgery.…”

An unusual cause of idiopathic megacolon in a juvenile

“…Several case reports showed that IMC may develop devastating complication, such as perforation of the dilated bowel and subsequent peritonitis and sepsis, metabolic and electrolyte abnormalities. [14] Compression of the diaphragm by the megacolon with subsequent respiratory failure, [15] colonic volvulus, [11] compression of the pelvic veins and bladder outlet by the megacolon, with resulting acute shower thromboemboli in the lungs [4,13] also have been reported.…”

Hirschsprung’s disease: 13 years’ experience in 112 patients from a single institution

“…Although mortality involves mainly newborns or young children, some reports described adult deaths due to septic complications secondary to severe enterocolitis [5]. Postoperative results of the surgical treatment of HSCR appear to be satisfactory.…”