Differential Diagnosis for Hirschsprung Disease

Single Most Likely Diagnosis

• Hirschsprung disease: This is the most likely diagnosis given the context of the question, as it is a congenital condition characterized by the absence of ganglion cells in the distal bowel, leading to intestinal obstruction.

Other Likely Diagnoses

• Intestinal atresia: This condition involves a blockage or closure of a portion of the intestine, which can present with similar symptoms to Hirschsprung disease, such as abdominal distension and failure to pass meconium.
• Meconium ileus: This condition is characterized by a blockage of the small intestine due to impacted meconium, which can be a presenting feature of cystic fibrosis.
• Necrotizing enterocolitis: This is a condition where a portion of the bowel tissue dies due to lack of blood supply, often seen in premature infants.

Do Not Miss Diagnoses

• Intussusception: Although less likely, this condition involves the telescoping of one portion of the intestine into another, which can cause intestinal obstruction and ischemia, making it critical to diagnose promptly.
• Volvulus: This is a condition where the intestine twists around its mesentery, cutting off blood supply, which is a surgical emergency.
• Midgut volvulus: A specific type of volvulus that can occur in infants and is associated with malrotation of the intestine.

Rare Diagnoses

• Chronic intestinal pseudo-obstruction: A rare condition characterized by recurrent episodes of intestinal obstruction without any mechanical blockage.
• Congenital megacolon (other than Hirschsprung disease): Other rare conditions that can cause megacolon, such as neuronal intestinal dysplasia or chronic idiopathic intestinal pseudo-obstruction.
• Ganglioneuromatosis: A rare condition involving the proliferation of ganglion cells and nerve fibers in the intestine, which can cause intestinal obstruction.