The Cerebro-ocular-renal Dystrophies: a new variant

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Abstract
The following syndrome has been defined following its investigation in 2 brothers whose parents were unrelated and healthy. Little desire for food from birth; failure to grow and thrive; later, vomiting and sporadic attacks of diarrhoea. Corneal opacities, partial blindness and nystagmus. Mental retardation, intention tremor and (in one sibling) convulsions. Serum: "total CO2" very low, sodium low normal, potassium over normal, phosphorus normal, urea in the early stages 80-100 mg/100 ml, terminal stages 270 mg. Urine: always sterile, highly acid. Sp. gr. 1017 or more in the early stages. NH3 x 100/NH3 + titratable acidity abnormally low, but no reduction in the glutaminase activity of the kidney in vitro. Normal response to acetazolamine (one test). Death from progressive renal failure. Post mortem: conspicuous structural abnormalities in the brain, slight keratinization and vascularity of the cornea. Some calcification of the kidney. Many small (perhaps undeveloped) glomeruli in the periphery of a narrow cortex and no testes.