Presentation of Juvenile Metachromatic Leukodystrophy: A Rare Case Report

Metachromatic leukodystrophy (MLD) is the neurometabolic disease caused by deficiency of enzyme arylsulfatase a resulting in deficiency of sulfatide degradation. A 15-year-old male child born out of non-consanguineous parents presented with the history of weakness of both upper and lower limb for last one year with progressive impairment and clumsiness of gait for last 6 months; deterioration of school performance was noted for last 6 months. Metachromatic Leukodystrophy is to be strongly suspected in a child when present with features of developmental regression coupled with the unusual combination of pyramidal dysfunction and peripheral neuropathy, consanguinity and positive family history.