Extreme coprostatis in a case of Hirschsprung disease

Clinical History

As a child the patient was referred to the hospital with constipation problems. She was told that it would go away when she got older, but the condition only worsened. At 30 years of age, the diagnosis was made, but she refused operation. 30 years later, a status CT was performed.

Imaging Findings

A contrast-enhanced CT examination performed in the venous phase in this relatively asymptomatic patient shows extreme dilatation with coprostasis of the descending colon, sigmoid and rectum. The ascending and transverse colon are not affected. The retroperitoneal organs are only slightly affected with the iliacal vessels bilaterally displaced in the dorsolateral direction, whereas the uterus, vagina and bladder are completely compressed.

Discussion

Hirschsprung disease is a congenital disease, affecting the colon and sometimes the anal part of the small intestine. The condition is more common in boys than in girls and the rectosigmoid junction is involved in more than 60% of cases [1]. In Hirschsprung disease, the nerve cells facilitating muscle contraction in order to pass stools though the colon are missing. In severe cases, the entire colon is affected (colonic aganglionosis). Often the children have chromosomal abnormalities as well - with Down syndrome being the most common syndrome [2]. Clinical symptoms vary from mild to severe constipation depending on the length of the denervated area. Persons with untreated Hirschsprung disease carry a risk of developing enterocolitis due to bacterial overgrowth in the stagnant faecal masses [3].

Normally the condition is diagnosed in the first days of life, if the newborn child fails to pass stool and presents with a swollen and gas-filled belly. Brown or green faecal-looking vomit is common and diarrhoea can occur since only the fluid bowel contents (e.g. bowel secretion) can pass. In mild cases, where the denervation only affects a small area, stool will eventually pass and the condition will not be diagnosed initially. In early childhood, a history of relapsing constipation every time motility medication is discontinued should point to the diagnosis. If there are complaints of a gas-filled, swollen belly especially in a child who fails to gain weight properly, Hischsprung disease must be excluded.

The diagnosis is suspected from the clinical presentation. Imaging diagnostics for detecting Hirschsprung disease include conventionel colonic X-ray imaging using a contrast agent (barium or a water-soluble contrast media) delivered through a rectal probe. In the newborn, images will often show a dilated, gas-filled bowel segment followed by an underdeveloped, narrow segment of the colon (microcolon) more distally [4]. In older children, the denervated bowel segment may be filled with faeces. A biopsy of the bowel wall is usually needed to confirm the diagnosis.
Hirschsprung disease is treated by removing the diseased segment (-s) of the bowel and forming a temporary colostomy or ileostomy. In most cases, the bowel loops can be reconnected a couple of years later [5]. Recently botulinium toxin injections for treating obstructive symptoms have shown promising results [6]. Late symptoms vary with the extent of the disease prior to surgery, but in most cases, the patient will be cured and be able to pass stools normally.

Differential Diagnosis List

Final Diagnosis

Hirschsprung disease

URL:	https://www.eurorad.org/case/12765
DOI:	10.1594/EURORAD/CASE.12765
ISSN:	1563-4086