A Case of Late Infantile Metachromatic Leukodystrophy

Abstract

Metachromatic leukodystrophy (MLD) is a neurodegeneratve disease inherited as an autosomal recessive trait, in which sulfatide is excessively accumulated in the lysosomes of the central and peripheral nervous system as well as many other tissues. Biochemically, a deficiency of the lysosomal enzyme, arylsulfatase A (cerebroside sulfatase) is known cause of MLD. In its most common (late infantile) form, developmental psychomotor regression appears initially between the age of 9 and 18 months, followed by aphasia, dysphagia, optic atrophy, and spastic quadriplegia. The neurologic deterioration is inexorable and death usually occurs within several years of onset. We experienced a case of late infantile metachromatic leukodystrophy in a two-year-old girl who showed typical clinical, radiologic and laboratory findings. The disease was confirmed by arylsulfatase A activities in 24h urine and sural nerve biopsy, which revealed metachromatic granule in toluidine blue and cresyl violet staining.