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Published in: Metabolic Brain Disease 2/2017

01-04-2017 | Short Communication

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

Authors: Minyan Jiang, Sha Liu, Hua Jiang, Yunting Lin, Yongxian Shao, Hao Hu, Xiaoyuan Zhao, Hongsheng Liu, Yonglan Huang, Li Liu

Published in: Metabolic Brain Disease | Issue 2/2017

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Abstract

Fucosidosis is a rare lysosomal storage disease caused by α-fucosidase deficiency, which leads to progressive neurological deterioration and death. Hematopoietic stem cell transplantation is the best curative therapy if performed during the early stages of disease. We report two fucosidosis patients with brain abnormalities and the challenge faced in their management. The first patient received supportive therapy and the second one firstly underwent unrelated donor umbilical cord blood transplantation. After a period of follow-up, we found neurological symptoms were worsening day by day on patient1. By contrast, patient2 who received cord blood transplantation acquired clinical neurologic improvement in response to normalization of deficient enzymatic activity. This report indicates that hematopoietic transplant could reduce the severity and retard the progression of clinical neurological deterioration. Umbilical cord blood transplantation is a novel approach for treating fucosidosis patients who lack suitable bone morrow donors.
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Metadata
Title
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
Authors
Minyan Jiang
Sha Liu
Hua Jiang
Yunting Lin
Yongxian Shao
Hao Hu
Xiaoyuan Zhao
Hongsheng Liu
Yonglan Huang
Li Liu
Publication date
01-04-2017
Publisher
Springer US
Published in
Metabolic Brain Disease / Issue 2/2017
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI
https://doi.org/10.1007/s11011-017-9968-5

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