What tests are done to confirm Hirschsprung's disease?

Examination of Hirschsprung disease usually requires combining clinical symptoms and confirming the disease through multiple methods such as X-ray barium enema, rectal catheter biopsy, and pressure measurement. These methods can clarify the scope and extent of the disease and provide a basis for formulating treatment plans.

1X-ray barium enema examination

This is the preferred imaging test for confirming Hirschsprung's disease, and it can clearly show the narrow and dilated segments of the intestine. By performing X-ray imaging after injecting barium into the rectum, the lesion can be seen as a narrow distal rectum with a contrast of proximal dilation. This examination is especially important for newborns and infants. Fasting and bowel cleansing should be performed before the examination to ensure clear images.

2. Rectal catheter biopsy

Rectal biopsy is the "gold standard" diagnostic method for determining the cause of the disease. By collecting tissue samples from the lesion site for pathological examination, it is observed whether the intestine lacks intrinsic ganglion cells. For example, patients with megacolon usually show a loss of ganglion cells and excessive proliferation of nerve fibers. This method is very authoritative in determining whether there is a neurodevelopmental abnormality and is often used in conjunction with imaging examinations.

3. Pressure measurement inspection

In professional medical institutions, rectal pressure measurement is also performed to evaluate the contraction and relaxation response of the anal sphincter, which can help determine whether the rectal nerve function is abnormal and further clarify whether the diagnostic criteria for congenital megacolon are met. This test is low-risk and non-invasive, but it may not be suitable for newborns.

If you have symptoms such as chronic constipation, bloating, and vomiting, especially in infants and young children, you should see a doctor as soon as possible for the above-mentioned related examinations. Combining multiple diagnostic methods, the doctor can determine whether you have Hirschsprung's disease and the extent of the disease, and then develop a personalized treatment plan and perform surgery to improve symptoms if necessary.