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Santavuori disease

Diagnosis by leukocyte ultrastructure

Department of Neurology (Drs. Baumann and Markesbery) and the Department of Pathology and The Sanders-Brown Research Center on Aging (Dr. Markesbery), University of Kentucky, Lexington, KY.

Since Santavuori's 1973 description of infantile neuronal ceroid lipofuscinosis, 46 of the 58 reported cases have been Finnish. We recognized the disorder in three children from two 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 approximately 15 to 21% of lymphocytes and larger monouclear cells. Similar cytoplasmic inclusions were seen in neurons, astrocytes, macrophages, and endothelial cells of a frontal lobe biopsy from one 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.

Address correspondence and reprint requests to Dr. Baumann, MS129, Department of Neurology, University of Kentucky, Lexington, KY 40536.

This investigation was supported in part by the Dread Disease Fund, United Way of the Bluegrass, and Grant AG025759.

Accepted for publication April 19, 1982.

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