Differentiating Hirschsprung's Disease from other Diseases: Difference between revisions

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==Differentiating Hirschsprung's Disease from other Diseases==
==Overview==
* Differential diagnosis includes:
Hirschsprung's disease must be differentiated from other diseases that cause a failure to pass [[meconium]] or [[abdominal distension]] in infants, including [[meconium plug syndrome]], [[small left colon syndrome]], and [[congenital hypothyroidism]].
* [[Intestinal cyst]] or [[tumor]]
==Differentiating Hirschsprung's disease from other diseases==
* [[Meconium plug syndrome]]
Hirschsprung's disease must be differentiated from other diseases in infancy such as the following that present with similar features, including a failure to pass [[meconium]], [[abdominal distension]], and non-bilious vomiting.
*[[Meconium plug syndrome]]
*[[Small left colon syndrome]]
*[[Intestinal atresia|Distal small intestine/colon atresia]]
*[[Meconium ileus]] and [[cystic fibrosis]] complex
 
{| class="wikitable"
!Disease
!Prominent clinical features
!Radiological findings
|-
|[[Meconium plug syndrome]]
|
* Transient [[intestinal obstruction]] for 1-2 days after birth.
* Obstruction is functional due to dilated colon and delayed passage of feces.
* Usually seen in [[premature infants]].<ref name="pmid18485962">{{cite journal |vauthors=Keckler SJ, St Peter SD, Spilde TL, Tsao K, Ostlie DJ, Holcomb GW, Snyder CL |title=Current significance of meconium plug syndrome |journal=J. Pediatr. Surg. |volume=43 |issue=5 |pages=896–8 |year=2008 |pmid=18485962 |pmc=3086204 |doi=10.1016/j.jpedsurg.2007.12.035 |url=}}</ref>
 
|[[Image:Meconium-plug-syndrome - Case courtesy of Radswiki, Radiopaedia.org, rID 11606.jpg|center|300px|thumb|Abdominal x-ray with contrast showing inspissated meconium in the intestine, proximal to the colon - Case courtesy of Radswiki, Radiopaedia.org, rID 11606]]
|-
|[[Small left colon syndrome]]
|
* Reduced caliber of the [[colon]] starting from [[splenic flexure]] and going down, causing [[intestinal obstruction]].
* Characterized by a sudden change of the colon diameter.
* Usually associated with [[gestational diabetes]].<ref name="pmid910057">{{cite journal |vauthors=Berdon WE, Slovis TL, Campbell JB, Baker DH, Haller JO |title=Neonatal small left colon syndrome: its relationship with aganglionosis and meconium plug syndrome |journal=Radiology |volume=125 |issue=2 |pages=457–62 |year=1977 |pmid=910057 |doi=10.1148/125.2.457 |url=}}</ref>
 
|[[Image:Small-left-colon-syndrome-1 - Case courtesy of Dr Eric F Greif, Radiopaedia.org, rID 30024.jpg|center|300px|thumb|Abdominal x-ray with contrast, shows decreased caliber of the descending and sigmoid colon, loss of haustration along with filling defects corresponding to retained feces - Case courtesy of Dr Eric F Greif, Radiopaedia.org, rID 30024]]
|-
|[[Intestinal atresia|Distal small intestine/colon atresia]]
|
* Failure to pass [[meconium]] due to failure of intestine recanalization.
* Proximal [[lesions]] have an earlier onset of symptoms than distal [[lesions]].
* [[Intestinal atresia|Colonic atresia]] may affect normal children or may be associated with other abnormalities as Hirschsprung's disease or [[gastroschisis]].<ref name="pmid17077911">{{cite journal |vauthors=Spitz L |title=Observations on the origin of congenital intestinal atresia |journal=S. Afr. Med. J. |volume=96 |issue=9 Pt 2 |pages=864 |year=2006 |pmid=17077911 |doi= |url=}}</ref>
 
|[[Image:Small-bowel-atresia - Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID 5959.jpg|center|300px|thumb|Normal appearing colon that is small and unused. Contrast fills the whole colon and passes to the ileum - Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID 5959]]
|-
|[[Meconium ileus]]
|
* [[Intestinal obstruction]] due to inspissation of [[meconium]] in the [[Ileum|distal ileum]].
* Most cases of [[meconium ileus]] are secondary to [[cystic fibrosis]].
* Typically presents with failure to pass [[meconium]] and [[abdominal distension]] with or without [[vomiting]].
* [[Meconium ileus]] may first present with complications, including [[perforation]] and [[volvulus]].<ref name="pmid14237408">{{cite journal |vauthors=HOLSCLAW DS, ECKSTEIN HB, NIXON HH |title=MECONIUM ILEUS. A 20-YEAR REVIEW OF 109 CASES |journal=Am. J. Dis. Child. |volume=109 |issue= |pages=101–13 |year=1965 |pmid=14237408 |doi= |url=}}</ref>
 
|[[Image:Meconium-ileus-neonate-with-cystic-fibrosis - Case courtesy of Dr Michael Sargent, Radiopaedia.org, rID 6009.jpg|center|300px|thumb|Contrast enema shows inspissated meconium starting from the mid-sigmoid colon and going up till the splenic flexure. The colon is normal in diameter, ruling out microcolon - Case courtesy of Dr Michael Sargent, Radiopaedia.org, rID 6009]]
|-
|[[Congenital hypothyroidism]]
|
*Most infants are born [[asymptomatic]].<ref name="pmid2295961">{{cite journal |vauthors= |title=Elementary school performance of children with congenital hypothyroidism. New England Congenital Hypothyroidism Collaborative |journal=J. Pediatr. |volume=116 |issue=1 |pages=27–32 |year=1990 |pmid=2295961 |doi= |url=}}</ref>
*Symptoms, if present, may include, but not limited to:
**[[Macroglossia]]
**Hoarse cry
**[[Umbilical hernia]]
**Puffy facies
**Increased head circumference
**[[Hypothermia]]
 
|
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Needs content]]
{{WH}}
[[Category:needs overview]]
{{WS}}
[[Category:Disease]]
[[Category:Gastroenterology]]
[[Category:Congenital disorders]]

Latest revision as of 14:39, 10 August 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Ahmed Younes M.B.B.CH [2]

Overview

Hirschsprung's disease must be differentiated from other diseases that cause a failure to pass meconium or abdominal distension in infants, including meconium plug syndrome, small left colon syndrome, and congenital hypothyroidism.

Differentiating Hirschsprung's disease from other diseases

Hirschsprung's disease must be differentiated from other diseases in infancy such as the following that present with similar features, including a failure to pass meconium, abdominal distension, and non-bilious vomiting.

Disease Prominent clinical features Radiological findings
Meconium plug syndrome
Abdominal x-ray with contrast showing inspissated meconium in the intestine, proximal to the colon - Case courtesy of Radswiki, Radiopaedia.org, rID 11606
Small left colon syndrome
Abdominal x-ray with contrast, shows decreased caliber of the descending and sigmoid colon, loss of haustration along with filling defects corresponding to retained feces - Case courtesy of Dr Eric F Greif, Radiopaedia.org, rID 30024
Distal small intestine/colon atresia
  • Failure to pass meconium due to failure of intestine recanalization.
  • Proximal lesions have an earlier onset of symptoms than distal lesions.
  • Colonic atresia may affect normal children or may be associated with other abnormalities as Hirschsprung's disease or gastroschisis.[3]
Normal appearing colon that is small and unused. Contrast fills the whole colon and passes to the ileum - Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID 5959
Meconium ileus
Contrast enema shows inspissated meconium starting from the mid-sigmoid colon and going up till the splenic flexure. The colon is normal in diameter, ruling out microcolon - Case courtesy of Dr Michael Sargent, Radiopaedia.org, rID 6009
Congenital hypothyroidism

References

  1. ↑ Keckler SJ, St Peter SD, Spilde TL, Tsao K, Ostlie DJ, Holcomb GW, Snyder CL (2008). "Current significance of meconium plug syndrome". J. Pediatr. Surg. 43 (5): 896–8. doi:10.1016/j.jpedsurg.2007.12.035. PMC 3086204. PMID 18485962.
  2. ↑ Berdon WE, Slovis TL, Campbell JB, Baker DH, Haller JO (1977). "Neonatal small left colon syndrome: its relationship with aganglionosis and meconium plug syndrome". Radiology. 125 (2): 457–62. doi:10.1148/125.2.457. PMID 910057.
  3. ↑ Spitz L (2006). "Observations on the origin of congenital intestinal atresia". S. Afr. Med. J. 96 (9 Pt 2): 864. PMID 17077911.
  4. ↑ HOLSCLAW DS, ECKSTEIN HB, NIXON HH (1965). "MECONIUM ILEUS. A 20-YEAR REVIEW OF 109 CASES". Am. J. Dis. Child. 109: 101–13. PMID 14237408.
  5. ↑ "Elementary school performance of children with congenital hypothyroidism. New England Congenital Hypothyroidism Collaborative". J. Pediatr. 116 (1): 27–32. 1990. PMID 2295961.

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