Metachromatic Leukodystrophy Diagnosed after Traumatic Brain Injury: A Case Report

Metachromatic leukodystrophy (MLD) is a rare inherited neurodegenerative disorder caused by a deficiency of a lysosomal enzyme arylsulphatase A. Herein, we report the case of a patient with late-onset MLD who presented with symptoms inconsistent with traumatic brain injury. The diagnosis of MLD was based only on MRI findings and low levels of arylsulphatase A. Although there was an underlying serious neurodegenerative disorder, the patient responded well to rehabilitation. Turk J Phys Med Rehab 2011;57:175-7.