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 A, Hellig J, Mahomed N, and Lambie L
- Subjects
- Child, Preschool, Congenital Abnormalities, Consanguinity, Drainage methods, Female, Humans, Hymen abnormalities, Hymen surgery, Magnetic Resonance Imaging methods, Menstruation Disturbances diagnosis, Menstruation Disturbances surgery, Recurrence, Treatment Outcome, Abnormalities, Multiple diagnosis, Abnormalities, Multiple physiopathology, Heart Defects, Congenital diagnosis, Heart Defects, Congenital physiopathology, Hydrocolpos diagnosis, Hydrocolpos physiopathology, Polydactyly diagnosis, Polydactyly physiopathology, Urinary Tract Infections diagnosis, Urinary Tract Infections etiology, Urinary Tract Infections physiopathology, Urinary Tract Infections therapy, Urogenital Surgical Procedures methods, Uterine Diseases diagnosis, Uterine Diseases physiopathology
- 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., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2017
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