A CASE OF ANIRIDIA-WILMS' TUMOR SYNDROME
1987 Volume 78 Issue 2 Pages 341-345
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1987 Volume 78 Issue 2 Pages 341-345
A case of Wilms' tumor associated with congenital malformations of the eye and abnormal chromosomes 46XX, t(11; 13) (p13; p11) was presented.
Only 13 cases of aniridia-Wilms' tumor syndrome have been reported in Japan and this is the 14th.
The patient was a 1-year-old girl weighting 2480g at birth, and recognized 3 months after birth to have congenital sporadic aniridia, nystagmus, glaucoma and macular aplasia. There was no family history of aniridia or other malformations.
When she was 1 year old, an abdominal mass was proved to be a Wilms' tumor, and aniridia-Wilms' tumor syndrome was diagnosed. After left nephrectomy for Wilms' tumor she received Linac irradiation to the tumor bed, and Actinomycin-D and Vincristin were given at several intervals.
One year after the operation, she died of staphylococcal scalded skin syndrome and pneumonia during chemotherapy.
The present case clearly emphasizes that, along with a check for aberrations of chromosome 11 children with congenital sporadic aniridia should be carefully followed by ultrasound or intravenous urography as the early detection of the tumor, so often association with it, is of vital importance in the prognosis of the disease.
