Hirschsprung's Disease – Diagnosis of Hirschsprung's Disease

Hirschsprung’s disease

is a congenital disease that is diagnosed early in childhood. In this disease, there is congenital absence of autonomic ganglia in the smooth muscle wall of the colon. It results in poor or no peristalsis in the affected segment of colon. In this article we will discuss about diagnosis and treatment of Hirschsprung’s disease.

Hirschsprung’s disease is named after the Danish physician,

Harold Hirschsprung,

who first identified this disease in 1886. It is also called congenital intestinal aganglionosis (CIA). Swollen abdomen, vomiting, constipation and anemia are some of its symptoms.

Diagnosis of Hirschsprung’s disease

: A doctor first examines the symptoms and then performs a detailed physical examination. Generally, the child’s bowel movements are looked for. The doctor confirms the disease by doing one of the following tests:

Abdominal X-ray:

An x-ray is radiological image of an organ. Here an x-ray of large intestine is taken. Barium liquid is inserted into the large intestine through the anus and image is taken. This ensures the clear show up of the large intestine.

In Hirschsprung’s disease, the x-ray shows the last segment of the large intestine narrower than normal. Before this narrow segment, the other part of the intestine looks more bulged than normal. This bulging indicates Hirschsprung’s disease. Bulging is caused by blocked stool stretching the intestine.


This test is often done in older children. The doctor sends a small balloon inside the rectum and inflates it. In normal conditions, the rectal muscles relax by this treatment. If the muscles do not relax, it indicates Hirschsprung’s disease.


This is the most accurate diagnostic test for Hirschsprung’s disease. In this test, a tiny piece of the large intestine is removed and observed under a microscope. The disease is confirmed if nerve cells are found missing.


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