Wilms腫瘍と先天性奇形の合併 - 無虹彩症-Wilms 腫瘍症候群の1例を経験して -

Abstract

A case of Wilms' tumor associated with various congenital malformations of the eye was presented herein. The only 26 cases of the aniridia-Wilms' tumor syndrome were reported as far as our world-wide literature reviewed. Etiologic considerations were discussed by Miller in 1964. The patient is the third case of the syndrome in Japan. The patient was a 2-year, 5-month-old girl, who had been the 2, 600 g product of an uneventful pregnancy, but of consanguineous marriage. Neither of parents had any congenital anomalies and there was no family history of aniridia or other significant disorders. At the age of 20 months old, she was diagnosed as congenital bilateral aniridia, bilateral glaucoma (postoperative), right secondary cataract, left congenital posterior polar cataract with partial coloboma and bilateral horizontal nysi•agmus at the ophtalmological clinic of Yamaguchi University Hospital. At that time, no space-occupying lesions could be documented in either of the kidneys on an intravenous urogram. Nine months later, the patient was again seen with the complaint of an abdominal mass and an episode of painless gross hematuria. Physical examination revealed a large tumor filling the left side of her abdomen. An intravenous urography and an operation disclosed a large tumor to be confined to the left kidney. A nephrectomy was performed. Histologically, the tumor was Wilms' tumor. She received five series of intravenous administration of actinomycin-D, and a course of radiation therapy. At present, she is in good health without any signs of recurrence or metastasis.