Light and electron microscopic study of juvenile neuronal ceroid-lipofuscinosis lymphocytes.

We report the findings of a light and electron microscopic follow-up study of lymphocytes from 10 patients with juvenile neuronal ceroid-lipofuscinosis. Vacuolated lymphocytes observed by electron microscopy varied from 34-67% in 22 different specimens from 10 patients. Although the percentage of vacuolated lymphocytes increased with duration of the illness in 5 of 6 patients who were younger than 11 years of age, there was no such tendency in 4 patients who were older than 13 years. This result may indicate that vacuolated lymphocytes increase with the duration of illness until an age of saturation. Three to 46% of lymphocytes contained lipopigments consisting of granular matrix and fingerprint profiles which were unrelated to age. Lymphocytes with fingerprint profiles constituted less than 12% of the total and could not be found during examination of 100 lymphocytes in 6 of 22 specimens.