| Late Infantile-Onset Globoid Cell Leukodystrophy: Treatment using Hematopoietic Stem Cell Transplantation. |
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Sang Heun Lee, Ara Ko, Chuhl Joo Lyu, Jin Sung Lee, Joon Soo Lee |
1Divison of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. joonsl96@yuhs.ac
2Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, Korea.
3Department of Clinical Genetics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. |
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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. |
| Key Words:
Krabbe disease, Late-onset globoid cell leukodystrophy, Hematopoietic stem cell transplantation |
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