Lymphocytes and urine in ceroid lipofuscinosis

Pathognomonic ultrastructural inclusions were found in the lymphocytes of 16 patients with neuronal ceroid lipofuscinosis (Batten's disease) and in the urine of three of four of such patients. These inclusions remained type specific for each patient and were identical with deposits in nerve cells and other body tissues. They persisted in lymphocytes in short-term tissue culture, but disappeared with stimulation by phytohemagglutinin. Siblings had identical inclusions. None were present in heterozygotes. Examination of lymphocytes in the peripheral blood cells is an easy method to use in the diagnosis of ceroid lipofuscinosis, but it cannot be used to detect carriers.