Hirschsprung disease

Case contributed by Jeremy Jones
Diagnosis almost certain

Presentation

Failure to pass meconium

Patient Data

Age: 0 days
Gender: Female
x-ray

Rotated film from an outside hospital. Distended gas-filled bowel on the left of the abdomen. There are additional gaseous lucencies that look like small bowel; therefore, the distended bowel looks like large bowel.

Failure to pass meconium with distal large bowel dilatation has a limited differential, including anal atresia (clinically not the case), Hirschprung disease and meconium plug syndrome. Hirschprung disease is the most likely.

Fluoroscopy

Lower GI contrast study with Omnipaque instilled rectally. The rectum is of narrow caliber. The sigmoid and descending colon are dilated with a shelf boundary between the two.

The last image, with the sigmoid and rectum visible, shows the reversal of the normal rectosigmoid ratio.

Case Discussion

Appearances here are of Hirschprung disease, which was confirmed with a punch biopsy of the rectum.

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