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Congenital Megacolon (Hirschsprung Disease)

Chad Hamner, MD Reviewed 04/2024
 


BASICS

DESCRIPTION

  • Congenital disease characterized by absence of neuronal ganglion cells from a portion of the intestinal tract:

    • 80% of cases involve rectosigmoid colon (short-segment disease)

    • 15–20% ex...

DIAGNOSIS

  • 3 modes of presentation: neonatal obstruction, chronic constipation, or enterocolitis 

  • Majority of HSCR patients present with neonatal obstruction.

  • Diagnosis may be missed in older children an...

TREATMENT

GENERAL MEASURES

  • Correct fluid and electrolyte imbalances.

  • Bowel rest

  • Abdominal decompression with a nasogastric tube

  • Removal of fecal accumulation with colonic irrigations

  • Manual disimpaction fo...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Postsurgical monitoring for fluid/electrolyte balance, protein-calorie nutrition, growth, and HASC symptoms

  • Long-term monitoring for continence, ...

REFERENCES

1
Gosain A, Frykman PK, Cowles RA, et al. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2017; 33:517–521.
2
Davidson JR, Kyrklund K, E...

ADDITIONAL READING

Bahrami A, Joodi M, Moetamani-Ahmadi M, et al. Genetic background of Hirschsprung disease: a bridge between basic science and clinical application. J Cell Bioch...

SEE ALSO

Constipation 

CODES

ICD10

Q43.1 Hirschsprung's disease 

SNOMED

  • 204739008 Hirschsprung's disease (disorder)

  • 24291004 Congenital dilatation of colon (disorder)

  • 204740005 Long segment Hirschsprung's disease (disorder)

  • 20474...

CLINICAL PEARLS

  • All infants with primary constipation must be evaluated for Hirschsprung disease.

  • Early diagnosis helps prevent toxic enterocolitis.

  • An unprepped barium enema followed by a suction recta...

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