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.
Borer
J G
JG
Department of Urology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Kaefer
M
M
Barnewolt
C E
CE
Elias
E R
ER
Hobbs
N
N
Retik
A B
AB
Peters
C A
CA
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