McKusick Kaufman syndrome, complications arising at puberty.

Abstract

BACKGROUND:

McKusick Kaufman Syndrome (MKS), a rare genetic condition, presents in the neonatal period with a classic triad of postaxial polydactyly, congenital heart disease, and hydrometrocolpos. The diagnosis is typically clinical, based on the presence of polydactyly and hydrometrocolpos.

CASE:

We report the case of a 13-year-old female, who was diagnosed with MKS in infancy and underwent vaginal reconstructive surgery for a urogenital sinus. She was lost to follow-up thereafter. She presented to our institution at age 13 with pyometra, pyosalpinx, and tubo-ovarian abscess due to a stenotic cervix obstructing menstrual outflow.

SUMMARY AND CONCLUSION:

Gynecologic follow-up is imperative in patients with history of vaginal reconstruction to monitor for hematometra from outflow obstruction to prevent life threatening secondary bacterial infections.

• Authors: Erin T Lueth, Kelly E Wood
• Journal: Journal of pediatric and adolescent gynecology (J Pediatr Adolesc Gynecol) Vol. 27 Issue 6 Pg. e125-6 (Dec 2014) ISSN: 1873-4332 [Electronic] United States
• PMID: 24656697 (Publication Type: Case Reports, Journal Article)
• Copyright: Published by Elsevier Inc.

Topics

• Abnormalities, Multiple (surgery)
• Adolescent
• Cervix Uteri (pathology, surgery)
• Female
• Heart Defects, Congenital (complications, surgery)
• Hematometra (etiology, surgery)
• Humans
• Hydrocolpos (complications, surgery)
• Polydactyly (complications, surgery)
• Postoperative Complications
• Puberty
• Pyometra (etiology, surgery)
• Tomography, X-Ray Computed
• Uterine Diseases (complications, surgery)