ABSTRACT

Metachromatic leukodystrophy is an autosomal recessively inherited disease, which is characterized by deficiency of arylsulfatase A enzyme and diffuse symmetrical demyelinization in cerebral white matter. A 38-yearold male patient admitted with the complaints of generalized tonic clonic seizures and common involuntary contractions in the whole body, which both had started 8 years ago. Generalized dystonia was detected in the patient in whom walking and speech disturbances additionally began 3-4 months ago. Diffuse subcortical, periventricular homogenous hyperintense lesions were detected in T2-weighted axial and coronal scans in cranial magnetic resonance imaging. The diagnosis of metachromatic leukodystrophy was established with all these findings. Metachromatic leukodystrophy with adulthood onset may present with seizures and changes in personality. We would like to emphasize that metachromatic leukodystrophy, one of the metabolic diseases, may be encountered as a cause of adulthood onset dystonia by making a literature review about the diagnosis, clinical presentation and treatment choices of the disease in this paper.