What tests can confirm Hirschsprung's disease?

Hirschsprung's disease can be diagnosed through barium enema X-ray examination, rectal biopsy, anorectal manometry, etc. Barium enema X-ray examination can directly observe the morphology of the colon and show the stenosis and dilation of the diseased intestinal segment; rectal biopsy can check the loss of ganglion cells, which is an important basis for diagnosis; anorectal manometry is used to evaluate anorectal function and determine whether there is defecation disorder.

1. Barium enema X-ray examination is the preferred examination method. Patients need to fast and take barium orally. The distribution and morphology of barium in the intestine can be observed by X-ray, which can clearly show the scope and characteristics of the diseased intestinal segment. The examination can show the stenotic segment, transitional segment and dilated segment. The intestinal wall of the stenotic segment is stiff and the intestinal cavity is narrowed. The transitional segment is funnel-shaped, and the intestinal cavity of the dilated segment is significantly enlarged. In some cases, the disappearance of the colon bag and the loss of normal curvature of the intestinal tube can also be observed. This examination is safe, non-invasive, and has a high accuracy rate. It is an important means of diagnosing congenital megacolon.

2. Rectal biopsy is a key test for diagnosis. Through rectal submucosal tissue biopsy, the number and distribution of ganglion cells in the intestinal wall can be observed. There should be dense ganglion cells in the normal intestinal wall, while patients with congenital megacolon show a significant reduction or absence of ganglion cells. According to the scope of the lesion, biopsy can be divided into full-thickness biopsy and submucosal biopsy. Full-thickness biopsy has a higher accuracy rate, but the operation is difficult; submucosal biopsy is relatively simple, but false negative results may occur. The diagnosis can be confirmed if the biopsy results indicate the absence of ganglion cells.

3. Anorectal manometry is used to evaluate the function of the anorectal canal. Insert the manometry catheter into the anus and record the pressure changes at rest and during defecation. Patients with Hirschsprung's disease often show the disappearance of the anorectal canal inhibition reflex, that is, the internal anal sphincter cannot relax normally when the rectum is stimulated. This examination can also evaluate functional indicators such as rectal compliance and sensory threshold, providing a reference for the formulation of surgical plans. Manometry is non-invasive and repeatable, but requires the cooperation of the patient.

4. Other auxiliary examinations include abdominal X-rays, ultrasound examinations, etc. Abdominal X-rays can show indirect signs such as colon dilatation and gas accumulation; ultrasound examinations can observe intestinal wall thickness, blood flow, etc. Although these examinations cannot directly confirm the diagnosis, they can provide clues for clinical diagnosis and are often used for preliminary screening and disease assessment.

The diagnosis of Hirschsprung's disease requires comprehensive consideration of multiple indicators such as clinical manifestations, imaging examinations, and pathological examinations. Barium enema X-ray examination, rectal biopsy, and anorectal manometry are the three key examination methods, each with its own characteristics and complementary to each other. Clinicians should choose the appropriate examination combination according to the patient's specific situation to ensure that the diagnosis is accurate. Early diagnosis and timely treatment are of great significance to improving prognosis, so suspected patients should be diagnosed and undergo comprehensive examinations as soon as possible.