Differentiating Hirschsprung's Disease from other Diseases

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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 disease must be differentiated from other diseases that cause failure to pass meconium and abdominal distension in infants, such as meconium plug syndrome, small left colon syndrome and congenital hypothyroidism.

Differential Diagnosis

Hirschprung's disease must be differentiated from other diseases in infancy presenting with similar features such as failure to pass meconium, abdominal distension, and non-bilious vomiting.

• Meconium plug syndrome
• Small left colon syndrome
• Distal small bowel /colonic atresia
• Meconium ileus and cystic fibrosis complex
• Congenital hypothyroidism

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.	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 diameter of the colon. Usually associated with gestational diabetes.	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 bowel /colonic atresia	Failure to pass meconium due to failure of recanalization of the intestine. Proximal lesions has an earlier onset of symptoms than distal lesions. Colonic atresia may affect normal children or may be associated with other abnormalities as Hirschsprung disease or gastroschisis.Spitz L (2006). "Observations on the origin of congenital intestinal atresia". S. Afr. Med. J. 96 (9 Pt 2): 864. PMID 17077911.	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 distal ileum. Most cases of meconium ileus are secondary to cystic fibrosis. Typically presents with failure to pass meconium, abdominal distension with or without vomiting. Meconium ileus may first present with complications perforation and volvulus.	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
Congenital hypothyroidism	*Most infants are born asymptomatic. Macroglossia Hoarse cry Umbilical hernia Puffy facies Increased head circumference Hypothermia