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.
Department of Urology, Helen Joseph Hospital, Johannesburg, South Africa; Department of Paediatric Urology, Rahima Moosa Mother & Child (Coronation) Hospital, Johannesburg, South Africa; Division of Urology, Department of Surgery, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. Electronic address: aadam81@gmail.com.
Ahmed
A
Adam
Department of Urology, Helen Joseph Hospital, Johannesburg, South Africa; Department of Paediatric Urology, Rahima Moosa Mother & Child (Coronation) Hospital, Johannesburg, South Africa; Division of Urology, Department of Surgery, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Julian
J
Hellig
Department of Radiology, Rahima Moosa Mother & Child (Coronation) Hospital, Johannesburg, South Africa; Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Nasreen
N
Mahomed
Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, Rahima Moosa Mother & Child (Coronation) Hospital, National Health Laboratory Service (NHLS), Johannesburg, South Africa.
Lindsay
L
Lambie
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology; D002675:Child, Preschool; D000013:Congenital Abnormalities; D003241:Consanguinity; D004322:Drainage / Q000379:methods; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D052202:Hydrocolpos / Q000175:diagnosis / Q000503:physiopathology; D006924:Hymen / Q000002:abnormalities / Q000601:surgery; D008279:Magnetic Resonance Imaging / Q000379:methods; D008599:Menstruation Disturbances / Q000175:diagnosis / Q000601:surgery; D017689:Polydactyly / Q000175:diagnosis / Q000503:physiopathology; D012008:Recurrence; D016896:Treatment Outcome; D014552:Urinary Tract Infections / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D013519:Urogenital Surgical Procedures / Q000379:methods*; D014591:Uterine Diseases / Q000175:diagnosis / Q000503:physiopathology