Aniridia and wilms's tumour (nephroblastoma).

Abstract

Examination under anaesthesia showed the comeae to be normal (diameter 10 mm. each eye). The ocular tension was 4 5 mm. Hg (Schi0tz) with the 5 5 gm. weight in each eye. Gonioscopy showed that only a small rim of iris tissue was present. The lenses appeared smaller than normal. Fundus examination showed a temporal crescent at both discs. There was a small hypermetropic refractive error in both eyes.There were two healthy sibs aged 18 months and 6 months. There was no family history of any form of eye anomaly.On admission the aniridia was confirmed (Fig. 1, opposite), and a large mass diagnosed clinically as Wilms's tumour (Fig. 2, opposite) was palpable on the right side of the abdomen. An intravenous pyelogram showed a large mass in the right kidney distorting the normal calyceal pattern and there was also evidence of a smaller mass in the left kidney.Pre-operative blood transfusion was necessary, a course of actinomycin-D was started, and at operation (Mr. J. Grieve) a large renal tumour was found on the right side. The inferior vena cava was blocked by local spread of the tumour. The left kidney was palpated at operation but no abnormality was found. A right nephrectomy was undertaken and the vena cava cleared by a Fogarty catheter. Microscopy confirmed that the tumour was a nephroblastoma.After the operation she was at first reasonably well but her clinical condition slowly deteriorated and despite intensive therapy she developed broncho-pneumonia and died.Post-mortem Examination (Dr. Mehroo Forbes).-This confirmed the broncho-pneumonia, and in the left kidney a mass 3 5 cm. in diameter was discovered which on microscopy was also shown to be a nephroblastoma. No metastases were found in any other organ.

Genetic Aspects of Childhood Tumours

“…III. The third group comprises 35 nephroblastoma cases who, besides the renal tumour, also have aniridia (Brusa andTorricelli 1953, Miller et al 1964: 6 cases;Fontana et al 1965, Zimmerman and Font 1966, Faure and Lange 1967, Schweisgut et al 1967Fraumeni and Glass 1968: 5 cases;Mackintosh et al 1968, Flanagan and Di George 1969, Woodard and Levine 1969, Miller 1969Gandhi et al 1970, Ledlie et al 1970, Haiken and Miller 1971, Le Marec et al 1971, Neidhardt 1972, Ladda et al 1974; pers. obs.…”