Santavuori disease

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Abstract
Since Santavuori''s 1973 description of infantile neuronal ceroid lipofuscinosis, 46 of the 58 reported cases have been Finnish. The disorder was diagnosed in 3 children from 2 different American families by leukocyte ultrastructure and clinical picture. These patients had the cardinal features of early developmental deterioration, retinal blindness, microcephaly and seizures. Ultrastructural study of buffy coats revealed compact, granular, osmiophilic membrane-bound cytoplasmic inclusions in .apprx. 15-21% of lymphocytes and larger mononuclear cells. Similar cytoplasmic inclusions were seen in neurons, astrocytes, macrophages and endothelial cells of a frontal lobe biopsy from 1 patient. The use of leukocyte ultrastructure combined with an awareness of the characteristic clinical picture should lead to the increased recognition of this disorder in American children.

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