Prenatally diagnosed segmental intestinal dilatation associated with anorectal malformation

Congenital segmental intestinal dilatation has a low incidence within the differential diagnoses of fetal abdominal cyst masses. Suspicion may arise at prenatal ultrasonography, but diagnosis is confirmed at surgery and subsequently at histopathological analysis. There are various theories available to explain its etiopathogenesis. Association with anorectal malformations is rare.

Newborn prenatally diagnosed with an abdominal cystic mass and diagnosed at birth with an associated anorectal malformation, with postoperative confirmation of segmental intestinal dilatation.

Segmental intestinal dilatation should be considered within the differential diagnoses when an abdominal cystic mass is prenatally detected at ultrasonography. Association with anorectal malformations at birth has been described, but it is unusual. Suspicion allows diagnosis and adequate treatment to be established.