Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome.
OBJECTIVE
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 the character and incidence of renal disease in patients with the Beckwith-Wiedemann syndrome, and discuss the role of radiological followup.


METHODS
We reviewed the medical records of all patients diagnosed with the Beckwith-Wiedemann syndrome who were treated at our institution between March 1979 and February 1998. Radiological followup consisted of renal ultrasound at approximately 3 to 6-month intervals with the addition of computerized tomography or magnetic resonance imaging (MRI) in patients with an indeterminate lesion(s) or nephrogenic rest(s).


RESULTS
A total of 29 patients were identified. Of these cases renal ultrasound showed normal kidneys bilaterally in 19 (70%), simple cysts in 5 (19%), indeterminate lesion(s) in 2 (7%) and nephrocalcinosis in 1 (4%). Nephrogenic 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 chemotherapy for stage I Wilms tumor.


CONCLUSIONS
The 3.7% incidence of Wilms tumor in our patients with the Beckwith-Wiedemann syndrome is similar to that in previously published reports. Aggressive follow-up by a sensitive radiological technique is warranted in cases of the Beckwith-Wiedemann syndrome, and associated hemihypertrophy and/or nephromegaly with or without evidence of a Wilms tumor precursor. The detection of suspected malignant disease at an early stage may permit curative nephron sparing surgery.
Department of Urology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
J G
JG
Borer
M
M
Kaefer
C E
CE
Barnewolt
E R
ER
Elias
N
N
Hobbs
A B
AB
Retik
C A
CA
Peters
D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000000981:diagnostic imaging* / Q000209:etiology* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography