Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome

Purpose: The Beckwith-Wiedemann syndrome is most commonly characterized by macroglossia and abdominal wall defect(s), and it carries a predisposition to embryonal tumors, including Wilms tumor. We report our experience with t he character and incidence of renal disease in patients with the Beckwith-W iedemann syndrome, and discuss the role of radiological followup. Materials and Methods: We reviewed the medical records of all patients diag nosed with the Beckwith-Wiedemann syndrome who were treated at our institut ion between March 1979 and February 1998. Radiological followup consisted o f renal ultrasound at approximately 3 to 6-month intervals with the additio n of computerized tomography or magnetic resonance imaging (MRI) in patient s with an indeterminate lesion(s) or nephrogenic rest(s). Results: A total of 29 patients were identified. Of these cases renal ultra sound showed normal kidneys bilaterally in 19 (70%), simple cysts in 5 (19% ), indeterminate lesion(s) in 2 (7%) and nephrocalcinosis in 1 (4%). Nephro genic rests were followed with MRI in 1 patient, and 1 in whom a 2 cm. mass was revealed by followup MRI underwent partial nephrectomy and chemotherap y for stage I Wilms tumor. Conclusions: The 3.7% incidence of Wilms tumor in our patients with the Bec kwith-Wiedemann syndrome is similar to that in previously published reports . Aggressive followup by a sensitive radiological technique is warranted in cases of the Beckwith-Wiedemann syndrome, and associated hemihypertrophy a nd/or nephromegaly with or without evidence of a Wilms tumor precursor. The detection of suspected malignant disease at an early stage may permit cura tive nephron sparing surgery.