Hirschsprung’s disease in the practice of a pediatrician

Abstract

Relevance: Hirschsprung’s disease (HD) is a congenital disease characterized by the absence of ganglion cells in the submucosal nerve plexus of Meissner, as well as the muscular-intestinal nerve plexus of Auerbach. This disease is one of the variants of neurocrystopathies and leads to disorders of intestinal peristalsis, which most often manifest themselves in the form of colon obstruction. About 80% of cases are caused by genetic mutations that are autosomal dominant with incomplete penetrance. The first symptoms of the disease usually appear immediately after birth, with a difficult discharge of meconium, in the future the disease is masked under chronic constipation, with which such patients most often come to see pediatricians. Aim: to present a clinical case of Hirschsprung’s disease, under the guise of chronic constipation Material and methods: The medical history of a boy aged 3 years 9 months with Hirschsprung’s disease, rectosigmoid form, subcompensation stage is presented.