DefinePK

Abstract

Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination. We report a case of a 15-year-old girl with 6 months history of progressive muscular weakness, poor school performance, gradual memory loss and gait disturbance. Neurological examination was grossly normal, except mild muscle wastage in both upper and lower limbs and slight reduction of power globally in all limbs. Routine bloods including a lumbar puncture was normal and the diagnosis of metachromatic leukodystrophy was made on the findings of magnetic resonance imaging (MRI) brain.