A Case Report of Metacromatic Leukodystrophy With Brain biopsy

Abstract

Metachromatic Leukodystrophy is a disorder transmitted as an autosomal recessive trait, in which massive sulfatide accumulation throughout the central and peripheral nervous systems, and to a lesser extent in other organs is seen because of congenital absence of the enzyme, sulfatase. Progressive cerebral deterioration is the most obvious clinical aspect, but hyporeflexia, muscular atrophy can alsa seen and diminished nerve conduction velocity reflect the presence of a neuropathy.