Hirschsprung's disease: Difference between revisions
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==Background== | ==Background== | ||
[[File:Diameters of the large intestine.png|thumb|Average inner diameters and ranges of different sections of the large intestine.<ref> Nguyen H, Loustaunau C, Facista A, Ramsey L, Hassounah N, Taylor H, et al. (July 2010). "Deficient Pms2, ERCC1, Ku86, CcOI in field defects during progression to colon cancer". Journal of Visualized Experiments (41). doi:10.3791/1931. PMC 3149991. PMID 20689513.</ref>]] | |||
[[File:PMC4955449 AJPS-13-82-g004.png|thumb|(A) Showing point of calibre change in the colon. (B) Resection of the aganglionic bowel and the severely dilated proximal colon.]] | |||
*Congenital aganglionosis of colon | *Congenital aganglionosis of colon | ||
*Usually affects rectosigmoid area | |||
**Short segment affects rectum and small amount of distal colon | |||
**Long segment affects more of colon, proximal intestine | |||
**Rarely involves more proximal intestine | **Rarely involves more proximal intestine | ||
*30% associated with a syndrome | *30% associated with a syndrome | ||
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==Clinical Features== | ==Clinical Features== | ||
[[File:PMC4955449 AJPS-13-82-g001.png|thumb|Three patients with late-diagnosis disease demonstrating abdominal distention.]] | |||
*Delayed meconium passage after birth | *Delayed meconium passage after birth | ||
*80% present within first month of life | *80% present within first month of life | ||
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***Distended abdomen, [[Nausea and vomiting (peds)|bilious vomiting]], enterocolitis | ***Distended abdomen, [[Nausea and vomiting (peds)|bilious vomiting]], enterocolitis | ||
*Enterocolitis | *Enterocolitis | ||
**[[Diarrhea (peds)|Diarrhea]], rectal bleeding, abdominal distention, [[fever]] | **[[Diarrhea (peds)|Diarrhea]], [[GI Bleeding (Peds)|rectal bleeding]], abdominal distention, [[fever]] | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
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==Evaluation== | ==Evaluation== | ||
[[File:PMC4955449 AJPS-13-82-g002.png|thumb|Abdominal X-ray showing: (A) Faecal stasis and huge dilated transverse colon. (B) Air fuid levels and cut-off sign.]] | |||
[[File:PMC4389175 Iranjradiol-12-02-12451-g001.png|thumb|Barium enema in neonate with Hirschsprung disease shows transitional zone and cobblestone appearance.]] | |||
[[File:PMC4389175 Iranjradiol-12-02-12451-g002.png|thumb|Barium enema in a 1-month-old male with Hirschsprung disease depicts bizarre irregular contraction.]] | |||
*[[KUB]] distended colon, empty rectum | *[[KUB]] distended colon, empty rectum | ||
**Enterocolitis: distention, bowel wall thickening | **Enterocolitis: distention, bowel wall thickening | ||
**Obstruction: air fluid levels | **Obstruction: air fluid levels | ||
*Barium/contrast enema will show narrowed colon and dilated intestine above | |||
**Sensitivity 70% and specificity of 83% | |||
*Diagnosis requires rectal biopsy (consult GI) | *Diagnosis requires rectal biopsy (consult GI) | ||
==Management== | ==Management== | ||
*Consult pediatric surgeon for operative management | *Consult pediatric surgeon for operative management | ||
*ED management may include gastric and rectal decompression | |||
*Treat enterocolitis with broad spectrum [[antibiotics]] | *Treat enterocolitis with broad spectrum [[antibiotics]] | ||
*Supportive fluid and electrolyte replacement | |||
==Disposition== | ==Disposition== | ||
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==External Links== | ==External Links== | ||
==References== | ==References== | ||
<references/> | <references/> | ||
[[Category:Pediatrics]] | |||
[[Category:GI]] | |||
Latest revision as of 21:01, 24 September 2025
Background
Average inner diameters and ranges of different sections of the large intestine.[1]
- Congenital aganglionosis of colon
- Usually affects rectosigmoid area
- Short segment affects rectum and small amount of distal colon
- Long segment affects more of colon, proximal intestine
- Rarely involves more proximal intestine
- 30% associated with a syndrome
- 1:5,000 live births
Clinical Features
- Delayed meconium passage after birth
- 80% present within first month of life
- May have delayed presentation in milder disease
- Chronic constipation
- Encopresis
- Rectal prolapse
- Obstruction symptoms
- Neonatal toxic megacolon may occur
- Distended abdomen, bilious vomiting, enterocolitis
- Neonatal toxic megacolon may occur
- Enterocolitis
- Diarrhea, rectal bleeding, abdominal distention, fever
Differential Diagnosis
Infant Constipation
- Constipation
- Hirschsprung's disease
- Congenital anorectal malformations
- Imperforate anus
- Bowel obstruction
- Neurologic disorders
- Encephalopathy
- Spinal cord abnormalities: myelomeningocele, spina bifida, tethered cord
- Meconium ileus
- Metabolic causes
- Heavy-metal poisoning
- Medication side effects
Evaluation
- KUB distended colon, empty rectum
- Enterocolitis: distention, bowel wall thickening
- Obstruction: air fluid levels
- Barium/contrast enema will show narrowed colon and dilated intestine above
- Sensitivity 70% and specificity of 83%
- Diagnosis requires rectal biopsy (consult GI)
Management
- Consult pediatric surgeon for operative management
- ED management may include gastric and rectal decompression
- Treat enterocolitis with broad spectrum antibiotics
- Supportive fluid and electrolyte replacement
Disposition
- Admit if symptoms of obstruction, enterocolitis
See Also
External Links
References
- ↑ Nguyen H, Loustaunau C, Facista A, Ramsey L, Hassounah N, Taylor H, et al. (July 2010). "Deficient Pms2, ERCC1, Ku86, CcOI in field defects during progression to colon cancer". Journal of Visualized Experiments (41). doi:10.3791/1931. PMC 3149991. PMID 20689513.