Hirschsprung Disease

Hirschsprung Disease is a condition that affects the large intestine, which is part of the digestive system. It happens when some nerve cells are missing from a section of the bowel, causing problems with moving stool through the intestines. This leads to severe constipation or blockage because the affected part cannot relax properly. Babies with this condition often have trouble passing their first stool and may have a swollen belly. The main health concern is difficulty with bowel movements, which can cause discomfort and serious complications if untreated. The disease primarily involves the nervous system within the bowel wall, which controls muscle contractions needed for normal digestion.

Hirschsprung Disease is a congenital disorder characterized by the absence of ganglion cells in the submucosal (Meissner) and myenteric (Auerbach) plexuses of the distal colon and rectum. This aganglionosis results from a failure of neural crest cell migration during embryonic development, commonly linked to mutations in the RET proto-oncogene. The lack of enteric neurons causes a functional obstruction due to tonic contraction of the affected bowel segment, leading to proximal bowel dilation and chronic constipation. Clinically, it presents with delayed passage of meconium, abdominal distension, and vomiting in neonates. The disease is significant because it can cause life-threatening complications such as enterocolitis and bowel perforation if not diagnosed and treated promptly. It is the most common cause of neonatal intestinal obstruction.