Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is an in heritedneurometabolic disease caused by deficiency of enzyme arylsulfatase A resulting in deficiency of sulfatide degradation. The responsible gene is arylsulfatase A(ARSA) gene. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). A pathological hallmark of MLD is demyelination and neurodegeneration. In people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills. We report a case of the lateinfantile MLD that was diagnosed by means of clinical history and typical MRI of brain findings.