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KMID : 0359719940120040800
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Journal of the Korean Neurological Association
1994 Volume.12 No. 4 p.800 ~ p.803
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A Case of Juvenile Matachromatic Ieukodystrophy
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박경석
김만호/이한보/나덕렬/박성호/지제근
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Abstract
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Metachromatic leukodystrophy (MLD) is a disorder of sulfatide metabolism due to deficiency of arylsulfatase A, with resulting accumulation of sulfatide in the brain, peripheral nerve and other tissues. Recently we expcrienced a typical case of
juvenile
MLD.
A 13 year-old female was presented with progressive motor impairment, mental regression, behavioral abnormalities and signs of peripheral neuropathy of 4 year duration. The admission routine serologic tests were within ncrmal limit, but CSF study
revealed elevation of protein. The electrophysiologic studies showed moderate degree of sensorimotor peripheral neuropathy. The level of arylsulfatase A in the 24 hour urine was 0.22mg/hr/24hr urine (normal value>1.0mg/hr/24hr urine). Sural neve
biopsy
showed lysosomal myelin materials in the Schwann cell cytoplasm and histiocytes, decreased myelinated fiber and onion-bulb formation. Typical metachromatic granules were found in urine sediment as well as in sural nerve. Brain MRI revealed
diffuse
subcortical demyelination and mild cerebral atrophy.
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KEYWORD
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