Hirschsprung disease

Discussion:

The above features are suggestive of short segment Hirschsprung disease.

Hirschsprung disease is a condition resulted by aganglionosis (absence of ganglion cells) in the distal colon and rectum.

Among the 4 types, short segment is the most common type and accounts 75% of the cases.

Carefully performed contrast enema helps in diagnosis of the disease, as well as the length of involved bowel segment.

Full-thickness rectal biopsy is needed for confirmation.

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