1. Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.
- Author
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Adam, Ahmed, Hellig, Julian, Mahomed, Nasreen, and Lambie, Lindsay
- Subjects
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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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