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題 名 | Myelination Arrest Demonstrated Using Magnetic Resonance Imaging in a Child with Type I G Gangliosidosis=罹患一型G 神經節苷脂沈積症孩童之磁振造影顯現髓鞘形成停止 |
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作 者 | 沈戊忠; 蔡輔仁; 蔡長海; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 97:4 1998.04[民87.04] |
頁 次 | 頁296-299 |
分類號 | 417.5 |
關鍵詞 | 一型G 神經節苷脂沈積症; 孩童; 磁振造影; Gangliosidosis; G type; Myelination; Magnetic resonance imaging; |
語 文 | 英文(English) |
英文摘要 | An 18-month-old girl was diagnosed as having G□ gangliosidosis, on the basis of the clinical symptoms of muscle stiffness, developmental retardation, hepato-splenomegaly, and kyphoscoliosis and a laboratory study that revealed a deficiency in the lysosomal degradative enzyme β -galactosidase. Magnetic resonance T1-weigh ted images showed persistent hyperintensity in the bilateral thalami, brainstern, and deep cerebellum at 14 and 18 months of age, indicating arrest of the myelination process in these areas, and that the arrest had occurred at the newborn stage. There was no myelination in the basal ganglia and diffuse leukomalacia developed in the cerebral hemispheres. Only supportive treatment was given; the patient died at 2 years of age. Myelination arrest at the newborn stage associated with progressive leukomalacia is a possible characteristic of gangliosidosis. |
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