Hirschsprung's disease (congenital megacolon)

Hirschsprung's disease (congenital megacolon) is a congenital anomaly of the innervation of the lower intestine, usually confined to the colon, which leads to partial or complete functional intestinal obstruction. Symptoms include persistent constipation and an enlarged abdomen. The diagnosis is based on the barium enema and biopsy. Treatment of Hirschsprung's disease is surgical.

[1], [2], [3], [4]

What causes Hirschsprung's disease?

Hirschsprung's disease is caused by an innate absence of autonomic neural plexuses (Meissner and Auerbach) in the intestinal wall. Usually, the lesion is limited to the distal colon, but it can cover the entire large intestine or even the entire thick and small intestine. Peristalsis in the affected segment is absent or abnormal, which leads to a constant spasm of smooth muscle and partial or complete intestinal obstruction with accumulation of intestinal contents and massive dilatation of the proximal, normally innervated segment. Almost never alternating lesions and unaffected segments.

Symptoms of Hirschsprung's disease

The most common symptoms of Hirschsprung's disease appear early: in 15% of patients during the first month, in 60% - for one year and for 85% to 4 years of age. In infants, manifestations include chronic constipation, an enlarged abdomen and eventually vomiting as with other forms of low intestinal obstruction. Sometimes children with a very short aganglio zone have only mild or recurrent constipation, often alternating with episodes of mild diarrhea, leading to late diagnosis. In older children, manifestations may include anorexia, the lack of a psychological urge to defecate, and when examined, an empty rectum with palpable caloric masses above the narrowing site. The child may also have hypotrophy.

Enterocolitis of Hirschstrung

Entericolitis Hirschsprunga (toxic megacolon) is a life-threatening complication of Hirschsprung's disease, which leads to a pronounced expansion of the colon, after which sepsis and shock often develop.

The reason for Hirschsprung's enterocolitis is associated with a pronounced extension of the proximal segment due to intestinal obstruction, intestinal wall thinning, excess bacterial growth and the movement of intestinal microorganisms. Shock can develop quickly, and death after it. Therefore, regular frequent examinations of children who have Hirschsprung's disease are necessary.

Hirschsprung's enterocolitis develops most often in the first months of life prior to surgical correction, but it can also occur after surgery. Clinical manifestations include increased body temperature, increased abdominal pain, diarrhea (which can be bloody) and further persistent constipation.

Initial treatment is maintenance, with fluid replenishment, bowel decompression with a nasogastric tube and a tube in the rectum, wide-spectrum antibiotics, including anaerobes (for example, a combination of ampicillin, gentamicin and clindamycin). Some experts suggest that enemas with physiological saline are used to cleanse the intestines, but they should be done carefully so as not to increase the pressure in the colon and cause perforation. As noted above, the radical treatment is surgical.

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Diagnosis of Hirschsprung's disease

Diagnosis of Hirschsprung's disease should be as early as possible. The longer the illness is not treated, the higher the likelihood of developing Hirshprung's enterocolitis (toxic megacolon), which can have fulminant flow and lead to the death of the child. Most cases can be diagnosed in the first months of life.

Initial tactics include enemas with barium or sometimes rectal biopsy. Irrigoscopy can reveal a difference in diameter between the enlarged, proximal, normally innervated segment and the narrowed distal segment (aganglion zone). Irrigoscopy should be performed without prior preparation, which can expand the affected segment, which makes the examination undiagnostic. Since characteristics may not be present in the neonatal period, a delayed picture should be performed 24 hours later; If the large intestine is still filled with barium, the diagnosis of "Hirschsprung's disease" is likely. When biopsy from the rectum can be detected the absence of ganglion cells. Staining for acetylcholinesterase can be carried out to reveal powerful neural trunks. Some centers also have the possibility of carrying out a program called rheromomanometry, which can reveal abnormal innervation. The final diagnosis requires a rectal biopsy at its full thickness.

[7], [8], [9], [10], [11], [12], [13], [14], [15]

Treatment of Hirschsprung's disease

Treatment of Hirschsprung's disease in the neonatal period usually included colostomy above the agangliozia zone for decompression of the colon, and also to allow the child to grow before the second stage of the operation. Later resection of the entire aganglio zone and the operation of lowering the colon are performed. At the same time, now some centers carry out a one-stage operation in the period of newborn.

After the final correction, the prognosis is good, although some children experience a chronic motor disability with constipation and / or obstruction symptoms.