A Case of Metachromatic Leukodystrophy with an Emphasis on Morphology

Abstract

Clinical, imaging, laboratory and morphological data of a metachromatic leukodystrophy (MLD) patient were analyzed retrospectively. The clinical picture consisted of progressing pyramidal, cerebellar, brain stem, optical, mental, and bowel and bladder disturbances, and epileptic seizures. Large symmetric periventricular T2 lesions were seen on the magnetic resonance imaging brain scans. Unspecific lesions of 11C-methionine storage were found by brain positron emission tomography. Light microscopy of brain biopsy did not reveal any morphological changes specific for MLD, but some unusual pictures of myelinopathy in many myelin fibers were detected by electron microscopy. Biochemical analysis of lysosomal ferments or their activator proteins and deoxyribonucleic acid (DNA) diagnostics were conclusive for the diagnosis of MLD. Differential diagnosis was performed to identify various leukodystrophy forms and other central nervous system diseases.