Studies in Batten Disease

Abstract

Lipopigments are prominent in Batten disease (Batten-Spielmeyer-Vogt [BSV] syndrome) and are considered to represent end products of lipid peroxidation. Peroxidase is an enzyme that can hydrolyze peroxides (hydrogen peroxide) and by this means reduce lipid peroxidation. Myeloperoxidase activity was markedly deficient in the white blood cells of four patients with the late infantile and juvenile forms of BSV. Deficient peroxidase activity was found by both histochemical and spectrophotometric methods using two different substrates (benzidine and phenylenediamine). Other laboratory criteria, such as hypergranulation of the neutrophils, correlated with the peroxidase deficiency. Vacuolated lymphocytes were only useful inthe juvenile form. The distinctive accumulation of ceroid in neurons and other cells of patients with this syndrome is attributable to deficient peroxidase activity. A short, fundamentally simple test for peroxidase activity in peripheral leukocytes is reported, and its usefulness illustrated.