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Neuronal ceroid lipofuscinosis in the amaurotic retardate: electron microscopic confirmation.

The clinical features of two cases of blindness with pigmentary retinopathy in young retardates are presented. The diagnosis of neuronal ceroid lipofuscinosis (Batten's Disease) was suspected. This was confirmed in both cases by electron microscopic examination of blood and skin with demonstration of fingerprint and curvilinear inclusions. These inclusions are present in cells other than neurons; circulating lymphocytes, smooth muscle cells and eccrine sweat glands suggesting a more widespread pathological process. Less invasive procedures namely venepuncture and skin biopsy may be preferred to brain and rectal biopsy in the absence of a practical biochemical analysis at the present time.