Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters
Open Access
- 1 October 1963
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 38 (201), 505-515
- https://doi.org/10.1136/adc.38.201.505
Abstract
Two infant sisters presented congenital cataracts, epileptic fits, mental deficiency and small stature. One died at 4 months, the other at 8 months. The post-mortem findings were identical in both cases; encephalopathy, renal tubular necrosis and cataracts. The condition resembles both the Marinesco-Sjogren and the Lowe''s syndromes, but could also be an instance of another, hitherto undescribed, disease.Keywords
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