Santiesteban VNJ, Merayo LRY, Montoto A, Camejo LZ

Language: Spanish
References: 13
Page: 220-222
PDF size: 135.49 Kb.

ABSTRACT

Metachromatic leukodystrophy (MLD) is a neurodegenerative, rare, inherited autosomal recessive disorder due to deficiency of the lysosomal enzyme arylsulfatase A. The disease is characterized by myelin degeneration in both central nervous system and peripheral nervous system, associated with the accumulation of galactosyl-3-sulfate ceramide (sulfatide) in glial cells and neurons. All forms of the disease involve a progressive deterioration of motor and cognitive function. Here we present a case of adult metachromatic leukodystrophy with progressive motor deterioration.

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