Down's syndrome, anorectal malformation and Morgagni's hernia: Description of an unusual clinic case

Abstract

Morgagni's hernia is a rare type of congenital diaphragmatic hernia that constitutes less than 5% of congenital diaphragmatic defects. It is moderately associated with congenital anomalies, while it is rarely associated with Down's syndrome or trisomy 21. On the other hand, the incidence of anorectal malformations in patients with Down's syndrome is relatively frequent, with an incidence of from 0.36% to 2.7%. We present the case of a newborn baby with Down's syndrome and anorectal malformation without fistula, colostomised, which evolved with episodes of intestinal subocclusion. In the study of a second episode of constipation, with colonography through the colostomy, a Morgagni hernia was found and afterwards surgically resolved. The objective is to point out the rarity of the association between Down's syndrome, Morgagni hernia and anorectal malformation.

Morgagni's hernia is a rare type of congenital diaphragmatic hernia that constitutes less than 5% of congenital diaphragmatic defects. It is moderately associated with congenital anomalies, while it is rarely associated with Down's syndrome or trisomy 21. On the other hand, the incidence of anorectal malformations in patients with Down's syndrome is relatively frequent, with an incidence of from 0.36% to 2.7%. We present the case of a newborn baby with Down's syndrome and anorectal malformation without fistula, colostomised, which evolved with episodes of intestinal subocclusion. In the study of a second episode of constipation, with colonography through the colostomy, a Morgagni hernia was found and afterwards surgically resolved. The objective is to point out the rarity of the association between Down's syndrome, Morgagni hernia and anorectal malformation.