Hirschsprung disease in children (intestinal aganglionosis) is caused by a congenital absence of nerve ganglion cells in the distal segments of the gastrointestinal tract—most commonly the rectum, sigmoid colon, and large intestine. It has been noted that boys are affected approximately five times more often than girls. The disease has a hereditary nature and is associated with mutations involving chromosome 10.
How does Hirschsprung disease present?
In Hirschsprung disease, the affected segment of the intestine is unable to relax. This area is characterized by persistent and pronounced muscular spasm. In addition, peristalsis is absent, which makes the passage of intestinal contents impossible. The bowel segment proximal to the affected zone becomes dilated due to accumulation of fecal matter and progressive atrophy of the muscular layer.
Clinical forms of the disease
Acute form. The acute form of Hirschsprung disease develops in cases of total or subtotal involvement of the colon. It manifests within the first days of a child’s life and is characterized by signs of low intestinal obstruction: absence of meconium passage, abdominal distension, and vomiting.
Subacute form. This form occurs when the aganglionic segment is shorter. It is characterized by persistent constipation, bowel movements only after enemas, abdominal enlargement, irritability, and delayed neuropsychological and physical development.
Chronic form. The chronic form develops when only the rectum is affected. Constipation typically appears in older children. Initially, constipation is intermittent, and spontaneous defecation may occur after cleansing enemas. As the disease progresses, fecal impaction (fecal stones) may form, leading to obstructive intestinal obstruction. These children often have reduced immunity and suffer from illnesses more frequently than their peers. A characteristic feature is abdominal enlargement due to dilation of the colon.
Diagnosis
The diagnosis of Hirschsprung disease is based on:
- clinical presentation;
- radiological studies (contrast enema / irrigoscopy);
- anorectal sphincter manometry (assessment of rectal sphincter tone);
- morphological and histochemical examination (confirmation of the presence or absence of nerve ganglion cells in the submucosal layer of the colon).
Treatment approach
In the acute form of the disease, surgical treatment is performed immediately after the diagnosis is established. Surgery is carried out in two stages. During the first stage, a segment of the intestine (stoma) is brought out to the anterior abdominal wall above the affected zone, while the diseased segment is closed. The second stage of surgery is performed after 1–1.5 years.
In Belarus, several surgical techniques are used for the treatment of Hirschsprung disease:
- Duhamel, Soave, and Swenson procedures. These operations involve resection of the aganglionic segment and creation of an anastomosis between the healthy bowel and the anal sphincter. Their disadvantages include higher surgical trauma, longer operative time, and the formation of scars on the anterior abdominal wall.
- Transanal endorectal pull-through (one-stage procedure). The least traumatic and most cosmetically favorable approach is the one-stage transanal endorectal resection of the rectosigmoid colon. The procedure includes dilation of the anal sphincter, mobilization of the rectum and sigmoid colon above the dentate line to a healthy bowel segment beyond the suprastenotic dilatation, followed by resection of the affected segment and formation of an anastomosis between the rectal mucosa and the wall of the sigmoid colon. This method offers several advantages: significantly shorter operative time, absence of abdominal wall scars, smoother postoperative recovery, and faster rehabilitation in children.
