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KMID : 0391520180260010057
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Journal of the Korean Child Neurology Society
2018 Volume.26 No. 1 p.57 ~ p.61
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Late Infantile-Onset Globoid Cell Leukodystrophy: Treatment using Hematopoietic Stem Cell Transplantation
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Lee Sang-Heun
Ko A-Ra
Lyu Chuhl-Joo
Lee Jin-Sung
Lee Joon-Soo
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Abstract
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Globoid cell leukodystrophy is a rare autosomal recessive disorder of the brain white-matter caused by galactosylceramidase deficiency; the disorder is classified into four types based on the age of onset. Approximately 80-85% of patients have an early infantile form, while 10-15% has a late infantile form. Globoid cell leukodystrophy leads to a progressive neurological deterioration, and affected patients rarely survive more than 2-3 years. Although many different treatments have been investigated over several decades, further research is still needed. Hematopoietic stem cell transplantation is the standard treatment for globoid cell leukodystrophy. Here, we report a case of symptomatic late-infantile globoid cell leukodystrophy treated with stem cell transplantation. After transplantation, disease progression ceased and cognitive and motor function improved. And a 6 months follow-up study using brain magnetic resonance imaging showed white matter involvement was increased. After that, annual follow-up brain magnetic resonance imaging showed a stable status of disease.
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KEYWORD
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Krabbe disease, Late-onset globoid cell leukodystrophy, Hematopoietic stem cell transplantation
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