Hirschsprung's disease: Difference between revisions
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==Background== | ==Background== | ||
[[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 | ||
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==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== | ||
Latest revision as of 07:02, 8 January 2022
Background
- 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