Q43.1

Clinical Causes: Genetic mutations that affect nerve development in the intestines Inherited traits passed down from parents Potential environmental factors during pregnancy, though less clearly established

Key Symptoms: Delayed passage of meconium (the first stool) within the first 48 hours after birth Constipation that persists or worsens over time Abdominal swelling or distension Episodes of vomiting, which may contain fecal material Poor feeding and weight gain in infants Risk of intestinal blockage, which can cause severe symptoms

Diagnosis Path: Medical history review, focusing on bowel movements and feeding issues Physical examination, including a digital rectal exam to feel for a distended colon Rectal biopsy – the definitive test where a tissue sample is taken from the rectum to check for missing nerve cells Contrast enemas, which use imaging to visualize the colon's structure and identify areas of narrowing or swelling Other tests, like anorectal manometry, to assess nerve reflexes and muscle function in the rectum

Treatment Protocols: Surgical removal of the aganglionic segment of the colon Creation of a temporary or permanent ileostomy or colostomy in some cases, to allow the bowel to heal and function more effectively Pull-through procedures that connect healthy parts of the intestine to the anus, restoring bowel continuity Postoperative care, including nutritional support and monitoring for complications Long-term management to address constipation or other bowel issues after surgery