A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
유전자 검사로 확진 된 이염색 백색질 장애 환아 1례
Ji Hyun Lee ; Kyong Bok Min ; Heung Dong Kim ; Joon Soo Lee ; Hoon Chul Kang ; Young-Mock Lee
Journal of Korean Neurology Association (대한소아신경학회지), Vol.19(3) : 272~276, 2011
Journal of Korean Neurology Association (대한소아신경학회지)
Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.