ACCUMULATION OF MITOCHONDRIAL ATP SYNTHASE SUBUNIT-C IN MUSCLE IN A PATIENT WITH NEURONAL CEROID-LIPOFUSCINOSIS (LATE INFANTILE FORM)

We report a case of late infantile neuronal ceroid lipofuscinosis (NCL ). Abnormal granules were found in the skeletal muscle fibers, Schwann cells, perineurial cells, endothelial cells, fibroblasts, and perivas cular smooth muscle cells in the sural nerve. Electron microscopy reve aled that these granules showed fingerprint profiles, curvilinear prof iles or membrane-bound membranous structures. Acid phosphatase reactio n was increased in these cells. Immunohistochemical studies for mitoch ondrial ATP synthase subunit c showed a strong reaction in these cells , suggesting abnormal accumulation of subunit c. Immunohistochemistry for subunit c in muscle may be useful in the diagnosis of late infanti le NCL.