Hirschsprung's disease

A congenital condition affecting the colon

Overview

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Diagram illustrating the affected colon in Hirschsprung's disease

Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the colon, leading to severe constipation or intestinal obstruction. This condition is also known as congenital aganglionic megacolon. It is named after the Danish physician Harald Hirschsprung, who first described the condition in 1888.

Pathophysiology

In Hirschsprung's disease, the absence of ganglion cells occurs in the myenteric plexus and submucosal plexus of the bowel. This results in a lack of peristalsis in the affected segment, causing a functional obstruction. The proximal bowel becomes dilated due to the accumulation of fecal material, leading to the characteristic megacolon.

Clinical Presentation

The disease typically presents in newborns with symptoms such as failure to pass meconium within the first 48 hours of life, abdominal distension, and vomiting. In older children, it may present as chronic constipation, failure to thrive, and enterocolitis.

Diagnosis

Diagnosis is confirmed through a combination of clinical evaluation, radiological imaging, and histopathological examination. A barium enema may show a transition zone between the normal and affected bowel. A definitive diagnosis is made by a rectal biopsy demonstrating the absence of ganglion cells.

Treatment

The primary treatment for Hirschsprung's disease is surgical. The most common procedure is the pull-through surgery, where the aganglionic segment is resected, and the normal bowel is anastomosed to the anus.

Prognosis

With appropriate surgical intervention, most children with Hirschsprung's disease can lead normal lives. However, some may experience complications such as enterocolitis, fecal incontinence, or constipation post-surgery.

Related pages

• Congenital disorder
• Intestinal obstruction
• Pediatric surgery