Hirschsprung’s disease
| Hirschsprung’s disease | |
|---|---|
| Hirschsprung acetylcholine.jpg | |
| 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
