Hirschsprung's disease

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Hirschsprung's disease
Synonyms	Congenital aganglionic megacolon
Pronounce	N/A
Specialty	N/A
Symptoms	Constipation, abdominal distension, vomiting, failure to thrive
Complications	Enterocolitis, bowel obstruction, perforation
Onset	Neonatal
Duration	Long-term
Types	N/A
Causes	Genetic mutation
Risks	Family history, Down syndrome, Waardenburg syndrome
Diagnosis	Rectal biopsy, anorectal manometry, contrast enema
Differential diagnosis	Chronic constipation, intestinal pseudo-obstruction
Prevention	N/A
Treatment	Surgical resection of the affected bowel segment
Medication	Laxatives, antibiotics for complications
Prognosis	Generally good with treatment
Frequency	1 in 5,000 live births
Deaths	Rare with treatment

A congenital condition affecting the colon

Introduction

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.

See also

• Congenital disorder
• Intestinal obstruction
• Pediatric surgery