Diagnosis typically involves a combination of clinical evaluation and diagnostic tests:
1. Clinical History and Physical Examination: A detailed history and examination often reveal signs like chronic constipation, abdominal distension, and vomiting.
2. Barium Enema: This imaging test helps visualize the colon and identify areas without nerve cells.
3. Rectal Biopsy: A small sample of rectal tissue is examined under a microscope to confirm the absence of ganglion cells.
4. Anorectal Manometry: This test measures the pressure inside the rectum and helps assess the function of the anal sphincter.
