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Journal of the Korean Neurological Association 1994;12(4): 800-803.
유년기형 이염성 뇌백질이영양증 1예
박경석, 김만호,이한보,나덕렬,박성호,지제근
서울대학교 신경과, 해부병리학. 보라매병원 신경과.
A Case of Juvenile Metachromatic Leukodystrophy
KS Park, M.D., MH Kim, M.D., HB Lee, M.D., DL Na, M.D., SH Park, M.D., JG Chi, M.D.
Department of Neurology, Seoul National University College of Medicine, Department of Neurology, Boramae City Hospital
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.