J Korean Child Neurol Soc.  2018 Mar;26(1):57-61. 10.26815/jkcns.2018.26.1.57.

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

• Lee SH
• Ko A
• Lyu CJ
• Lee JS
• Lee JS

• KMID: 2435276
• DOI: http://doi.org/10.26815/jkcns.2018.26.1.57

Abstract

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.

Keyword

Krabbe disease; Late-onset globoid cell leukodystrophy; Hematopoietic stem cell transplantation

MeSH Terms

Age of Onset
Brain
Disease Progression
Follow-Up Studies
Galactosylceramidase
Hematopoietic Stem Cell Transplantation*
Hematopoietic Stem Cells*
Humans
Leukodystrophy, Globoid Cell*
Magnetic Resonance Imaging
Stem Cell Transplantation
White Matter
Galactosylceramidase