Hirschsprung’s disease

Hirschsprung’s disease
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Abdominal radiograph of a child with Hirschsprung’s disease
Synonyms	Congenital aganglionic megacolon
Specialty	Pediatric surgery, Gastroenterology
Symptoms	Constipation, abdominal distension, vomiting, failure to pass meconium
Complications	Enterocolitis, bowel perforation, failure to thrive
Usual onset	At birth
Duration	Lifelong (surgically managed)
Causes	Absence of enteric ganglion cells (congenital)
Risk factors	Family history, genetic syndromes (e.g. Down syndrome)
Diagnosis	Rectal biopsy, anorectal manometry, contrast enema
Differential diagnosis	Meconium plug syndrome, small left colon syndrome, functional constipation
Prevention	None
Treatment	Surgical resection of the aganglionic segment
Medication	Supportive care (laxatives post-op if needed)
Prognosis	Good with treatment
Frequency	1 in 5,000 live births
Deaths	Rare with proper management

Hirschsprung’s disease is a congenital disorder characterized by the absence of enteric ganglion cells in the distal bowel, resulting in a functional obstruction. It is the most common cause of lower gastrointestinal obstruction in neonates.

Signs and symptoms

The disease typically presents in the neonatal period. Common clinical features include:

• Failure to pass meconium within the first 48 hours after birth
• Chronic constipation
• Abdominal distension
• Bilious vomiting
• Fecal impaction and overflow diarrhea
• In severe cases, Hirschsprung-associated enterocolitis may develop, which can be life-threatening.

Pathophysiology

Hirschsprung’s disease results from the failure of neural crest cells to migrate completely during intestinal development, leading to a segment of the colon without parasympathetic ganglion cells. The aganglionic segment cannot relax, causing a functional blockage and proximal bowel dilation (megacolon).

Diagnosis

Diagnosis typically involves:

• Contrast enema – reveals a transition zone between the narrowed aganglionic distal segment and the dilated proximal colon.
• Anorectal manometry – shows absence of the rectoanal inhibitory reflex.
• Rectal suction biopsy – confirms diagnosis by demonstrating absence of ganglion cells.

Treatment

The primary treatment is surgical, involving removal of the aganglionic section and reattachment of the normal bowel to the anus. Procedures include:

• Swenson procedure
• Soave procedure
• Duhamel procedure

Post-operative outcomes are generally favorable, though some patients may continue to have issues with constipation or fecal incontinence.

Prognosis

With early diagnosis and appropriate surgical management, the prognosis is good. Lifelong bowel issues may persist in a minority of patients, but most children lead healthy lives.

Epidemiology

Hirschsprung’s disease occurs in approximately 1 in 5,000 live births. It is more common in males (4:1 male-to-female ratio) and may be associated with genetic syndromes such as Down syndrome and Waardenburg syndrome.

See also

• Congenital megacolon
• Enterocolitis
• Neonatal bowel obstruction