Hirschsprung disease is a birth defect in which some nerve cells are missing in the large intestine, so a child’s intestine can’t move stool and becomes blocked. 

What is the Pathology of Hirschsprung Disease?

The pathology of Hirschsprung disease is:

-Etiology: The cause of Hirschsprung disease is a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases.

-Genes involved: Mutations in the RET gene.

-Pathogenesis: The sequence of events that lead to Hirschsprung disease are: where ganglionic cells of the myenteric and submucosal plexuses in the bowel aren’t present proximally from the anus to a variable length along the large intestine. The enteric nervous system is derived from the vagal segment of neural crest cells which migrate along the vagus nerve to enter the foregut mesenchyme in a cranial to caudal direction.

-Histology: The histology associated with Hirschsprung disease shows failure in peristalsis and bowel movements.

How does Hirschsprung Disease Present?

Patients with Hirschsprung disease typically males as compared to female at six months of age. The symptoms, features, and clinical findings associated with Hirschsprung disease include vomiting, swollen belly, and constipation.  

How is Hirschsprung Disease Diagnosed?

Hirschsprung disease is diagnosed by rectal biopsy, plain abdominal radiograph, and anal manometry.

How is Hirschsprung Disease Treated?

Hirschsprung disease is treated by surgery. Initial management would involve IV antibiotics, nasogastric tube insertion and bowel decompression.

What is the Prognosis of Hirschsprung Disease?

The prognosis of Hirschsprung disease is good.