Objective: Beckwith-Wiedemann syndrome (BWS) is a constellation of congenital anomalies that classically presents with macroglossia, abdominal wall defects and gigantism. Although renal and adrenal pathology are the most commonly associated urologic findings of BWS, we report a case of a girl with BWS and symptomatic clitoromegaly, recurrent urinary tract infections and vesicoureteral reflux, followed by a review of the literature regarding urologic manifestations of BWS.
Materials and methods: A comprehensive review of the literature for renal and non-renal urologic manifestations of BWS was conducted using a computer-based (PubMed) search. The reported renal and non-renal urologic findings are summarized.
Results: In addition to well-described renal manifestations, a variety of non-renal urologic findings have been reported in patients with BWS.
Conclusions: Healthcare providers should carefully evaluate both patients and their family members for urologic manifestations of BWS. Early diagnosis and thorough evaluation allows for potential improved management and prognosis of BWS urologic sequelae, including tumors, cryptorchidism and urinary tract abnormalities.
Published by Elsevier Ltd.