J Korean Neurol Assoc.
1994 Dec;12(4):800-803.
A Case of Juvenile Metachromatic Leukodystrophy
- Affiliations
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- 1Department of Neurology, Seoul National University College of Medicine, Korea.
- 2Department of Neurology, Boramae City Hospital, Korea.
Abstract
- 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 tissuse. Recently we experienced a typical case of juvenile MLD. A 13 year-old female was presented with progressive motor impaiment, mental regression, behavioral abnomalities and signs of peripheral neuropathy of 4 year duration. The admission routine serologic tests were within normal 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 0.22 mg/hr/24hr urine (normal value < 1.0 mg/hr/24hr urine). Sural nerve 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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