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

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.