3-year-old with Mayer-Rokitansky-Küster-Hauser syndrome and anorectal malformation: A case report

Anorectal malformation is associated with congenital anomalies affecting other body systems, including vertebral, anorectal, cardiac, tracheoesophageal, renal and limb defects. Mayer-Rokitansky-Küster-Hauser syndrome is a collection of several congenital defects in the female reproductive system, including congenital agenesis of the uterus, cervix, and upper two-thirds of the vagina, that could be associated with anorectal malformation.

A 3-year old female initially treated for vestibular fistula as she had only two orifices, who intra-operatively was discovered to have Mayer-Rokitansky-Küster-Hauser syndrome associated with cardiac, skeletal (foot), and anorectal anomalies.

The diagnosis Mayer-Rokitansky-Küster-Hauser syndrome should be considered in a female patient presenting with anorectal malformation especially when two orifices are encountered in the perineum. Mayer-Rokitansky-Küster-Hauser syndrome can be associated with vestibular or rectovaginal fistula, of which the former is the most common type that coexists. Treatment involves surgical and nonsurgical approaches, Surgically a new cavity is created to replace the vagina with a mucous membrane lined canal such as a bowel segment.

This case demonstrates that anorectal malformation with Mayer-Rokitansky-Küster-Hauser syndrome can be mistaken for a vestibular fistula, even in specialized centers like ours. Therefore, a high index of suspicion should be noted especially when examination under anesthesia confirms only two orifices in the perinium.