Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst

Abstract

Hypoplasia of the abdominal aorta (HAA) is a rare condition that causes marked hypertension. Although multiple etiologies have been postulated for HAA, congenital structural anomalies are rarely observed except in cases associated with some hereditary syndromes. The authors describe a neonatal case with HAA complicated by multiple anomalies including colonic atresia (CA), imperforate anus, choledochal cyst, facial cleft, and brain defects. This patient showed CA in the descending colon and caliber change in the transverse colon mimicking Hirschsprung disease, both of which were thought to be caused by vascular insult to the mesentery due to HAA. Although multiple surgical corrections were successfully performed, the hypertension was uncontrollable.