Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a group of genetic disorders called leukodystrophies. Metachromatic leukodystrophy is caused by a deficiency of the enzyme arylsulfatase A. Metachromatic leukodystrophy is characterized by the accumulation of lipids called sulfatides in the cells. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including the brain and spinal cord (central nervous system) and the peripheral nervous system. There are three forms of metachromatic leukodystrophy: infantile, juvenile, and adult. All forms of the disease involve a progressive deterioration of motor and neurocognitive functions. As the term implies, the presence of white matter abnormalities on brain images is characteristic. The authors present a case of a 7-years old child with this diagnosis. (author)