The Colorectal Quiz Episode 3.5: Proximal Hirschsprung Disease

The plain abdominal x-ray showed a big right colon, prominent transverse colon, and a compressed left colon with small lumen, along with possible small bowel dilation.

It is hard on a newborn film to really discern small and large bowel, and you can get fooled.

A baby with bilious emesis and non-classic abdominal x-ray could have had distal air and then had a volvulus, requiring urgent upper GI to rule out malrotation before contrast enema.

A limited upper GI was performed and ruled out malrotation in this child.

The contrast enema showed an impressive right colon with transverse colon tapering off, and a transition zone probably somewhere in the transverse colon.

Patients with proximal Hirschsprung disease are at risk of perforation, usually in the cecum.

To get a perforation, you need distension, and if you have a transition zone at the hepatic flexure, then all the pressure is in the right colon.

A baby that doesn't have a competent ileosecal valve might be saved from perforation because pressure can decompress into the small bowel.

You are obligated at some point, maybe after resuscitation, to get a rectal biopsy in a patient with suspected Hirschsprung disease.

If the transition zone is at the hepatic flexure, you can predict that enough pressure builds up in the right colon to have the cecum perforate.

You rarely get a perforation in a more standard sigmoid level transition zone.

A suction rectal biopsy confirmed the diagnosis of Hirschsprung disease in this patient.

Proximal Hirschsprung disease and distal Hirschsprung disease require two different operative approaches.