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2. Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.

Author

Adam, Ahmed, Hellig, Julian, Mahomed, Nasreen, and Lambie, Lindsay

Subjects
*DISEASE relapse, *URINARY tract infections in children, *POLYDACTYLY, *SYMPTOMS, *DIAGNOSIS, *THERAPEUTICS, *CONGENITAL heart disease diagnosis, *URINARY tract infection diagnosis, *URINARY tract infection treatment, *VAGINA abnormalities, *CONGENITAL heart disease, *CONSANGUINITY, *UROLOGICAL surgery, *MAGNETIC resonance imaging, *MENSTRUATION disorders, *URINARY tract infections, *UTERINE diseases, *TREATMENT effectiveness, *VAGINAL diseases, *MEDICAL drainage, *MULTIPLE human abnormalities, DIAGNOSIS of uterine diseases, VAGINAL surgery
Abstract

A 3-year-old female child presented with a history of recurrent urinary tract infections. On general examination, polydactyly and a pelvic mass were present. An imperforate hymen was also documented on vaginal inspection. Further inquiry revealed a positive history of parental consanguinity. A magnetic resonance imaging study defined a hydrometrocolpos responsible for an obstructive cause of the recurrent urinary tract infections. In view of the above, a diagnosis of McKusick-Kaufman syndrome was made. Formal surgical repair of the imperforate hymen with hydrometrocolpos drainage resulted in complete symptom resolution. McKusick-Kaufman syndrome, its presentation, symptoms, differential diagnosis, and underlying genetics were further expanded. [ABSTRACT FROM AUTHOR]

Published
2017
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