Late Infantile-Onset Globoid Cell Leukodystrophy: Treatment using Hematopoietic Stem Cell Transplantation

이상흔, 이준수, 이진성, 고아라, 유철주
2018 Journal of the korean child neurology society  
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
more » ... 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.
doi:10.26815/jkcns.2018.26.1.57 fatcat:62dyke4dsjb3jlailxlzexm7ne