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 rectosigmoid area
*Usually affects rectosigmoid area
***Short segment affects rectum and small amount of distal colon
**Short segment affects rectum and small amount of distal colon
***Long segment affects more of colon, proximal intestine
**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
*1:5,000 live births
*1:5,000 live births
==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
**May have delayed presentation in milder disease
**May have delayed presentation in milder disease
*Chronic constipation
*Chronic [[Constipation (peds)|constipation]]
**Encopresis
**Encopresis
**Rectal prolapse
**[[Rectal prolapse]]
*Obstruction symptoms
*[[Small bowel obstruction|Obstruction]] symptoms
**Neonatal toxic megacolon may occur
**Neonatal [[toxic megacolon]] may occur
***Distended abdomen, bilious vomiting, enterocolitis
***Distended abdomen, [[Nausea and vomiting (peds)|bilious vomiting]], enterocolitis
*Enterocolitis
*Enterocolitis
**Diarrhea, rectal bleeding, abdominal distention, fever
**[[Diarrhea (peds)|Diarrhea]], [[GI Bleeding (Peds)|rectal bleeding]], abdominal distention, [[fever]]
 
==Differential Diagnosis==
==Differential Diagnosis==
*Meconium ileus
{{Infant Constipation}}
**Cystic fibrosis
 
*Imperforate anus
*Constipation
*Bowel obstruction
==Evaluation==
==Evaluation==
*KUB distended colon, empty rectum
[[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
**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
*Treat enterocolitis with broad spectrum antibiotics
*ED management may include gastric and rectal decompression
*Treat enterocolitis with broad spectrum [[antibiotics]]
*Supportive fluid and electrolyte replacement
 
==Disposition==
==Disposition==
*Admit if symptoms of obstruction, enterocolitis
*Admit if symptoms of obstruction, enterocolitis
==See Also==
==See Also==
*[[Constipation (peds)]]


==External Links==
==External Links==


==References==
==References==
<references/>
<references/>
[[Category:Pediatrics]]
[[Category:GI]]

Latest revision as of 07:02, 8 January 2022

Background

(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
  • 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

Three patients with late-diagnosis disease demonstrating abdominal distention.

Differential Diagnosis

Infant Constipation

Evaluation

Abdominal X-ray showing: (A) Faecal stasis and huge dilated transverse colon. (B) Air fuid levels and cut-off sign.
Barium enema in neonate with Hirschsprung disease shows transitional zone and cobblestone appearance.
Barium enema in a 1-month-old male with Hirschsprung disease depicts bizarre irregular contraction.
  • 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