Definition and clinical description

Hirschsprung's disease (HSCR) is a congenital disorder of intestinal motility. It is characterised by signs of intestinal obstruction due to the absence of ganglion cells (aganglionosis) in the terminal intestine. Three forms have been identified as a function of the extent of aganglionosis: the classic, or short-segment, form, the long-segment form, and total aganglionosis of the colon.

Symptoms and prevalence

HSCR manifests itself soon after birth, with symptoms of obstruction of the colon or rectum: abdominal pain, constipation, progressive abdominal distension, vomiting, etc. In rare cases, the disease manifests itself in childhood, with symptoms of severe constipation and delayed growth.

Hirschsprung’s disease affects one newborn per 5,000, predominantly boys.

Care and treatment

The proposed treatment is surgery. This involves removing the non-functional section of the intestine. Parenteral nutrition by central catheter may be necessary.

Diagnostic method

Diagnosis is made by rectal biopsy. Anatomorphological examination of the sample shows the absence of ganglion cells.

Genetic analysis

Genetic analysis is difficult, since many genes with variable levels of expression are involved in the disease.