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 distention 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 Radiologiacal findings
Meconium plug syndrome
  • Transient intestinal obstruction for 1-2 days after birth.
  • Obstruction is functional due to dilated colon and delayed passage of faeces.
  • Usually seen in premature infants.
Small left colon syndrome
  • Reduced caliber of the colon starting from splenic flexure and going down causing intestinal obstruction.
  • Characterized by sudden change of the diameter of the colon.
  • Usually associated with gestational diabetes.
Distal small bowel /colonic atresia
  • Failure to pass meconium due to failure of recanalization of the intestine.
  • Proximal lesions has earlier 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.
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 volvolus.
Congenital hypothyroidism *Most infants are born asymptomatic.
  • Macroglossia
  • Hoarse cry
  • Umbilical hernia
  • Puffy facies
  • Increased head circumference
  • Hypothermia

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