Hirschsprung's disease refers to malformations of the left half of the large intestine. It is characterized by the absence of ganglion cells in the submucosal and intramuscular plexus. Hirschsprung's disease in children occurs in a ratio of 1: 5000 cases. In adolescents, it is detected much less frequently. Boys get sick five times more often than girls. For this pathological condition, the family nature of inheritance is characteristic. In some cases, the disease is associated with the appearance of Down syndrome. In adults, Hirschsprung's disease occurs when localized in the anorectal region. In severe cases, it can spread to the distal small intestine.
In the pathogenesis of the disease, a significant role is played by the absence of the influence of the parasympathetic division of the nervous system. The result of this condition is a delay in relaxation of the internal sphincter of the rectum, which leads to a constant spastic contraction, inhibition of peristalsis, expansion and hypertrophy. Clinically, the disease manifests itself in a condition called megacolon.
Hirschsprung disease can occur in a compensated, subcompensated and decompensated form. The severity of the pathological condition directly depends on the length of the angion site. The decompensated form is manifested by symptoms of severe intestinal obstruction.
The characteristic signs of the disease are intense pain, bloating, rumbling in the abdomen, constipation. Stool retention has a chronic course (in some cases it reaches a month). Bloating is also a constant sign of the disease, is severe in nature and can lead to difficulty in breathing. Bloating remains even after bowel movements with enemas. Its consequence can be called the appearance of intense pain. The main symptoms of the disease are nausea, vomiting, weakness, loss of appetite. Complications of this pathological condition are anemia, deformation of the rib corners. The presence of inflammatory processes, ulceration, and dysbacteriosis can lead to the appearance of persistent diarrhea, which cause exhaustion, a collaptoid state.
Diagnosis of Hirschsprung's disease begins with an external examination. There is an increase in the abdomen due to constant bloating, peristaltic contractions of the affected intestine, dense feces. The change in contractility of the anal sphincter is determined by digital examination. X-ray in an upright position allows you to get fairly accurate results. There is a change in the intestinal pattern due to the presence of a significant amount of gases, which cause obstruction. Other instrumental methods that are used to diagnose this pathological condition are colonoscopy, irrigoscopy. The latter is used to determine the extent and localization of the narrowing, the diameter of the suprastenotic zone of the colon.
In order to verify the diagnosis, a transanal biopsy is used. A decrease in the nerve ganglia of the intramuscular plexus is a sign that confirms Hirschsprung's disease. During surgery, this method helps to determine the level of resection.
Treatment of this pathological condition depends on the severity of its course. Compensated forms can be eliminated by conservative methods of therapy, in other cases, urgent surgical intervention is required, which consists in the application of a colonostomy, removal of the aganglion zone, decompensated, overly expanded sections of the large intestine. Mortality after treatment reaches four percent.