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- Title
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
- Authors
Jiang, Minyan; Liu, Sha; Jiang, Hua; Lin, Yunting; Shao, Yongxian; Hu, Hao; Zhao, Xiaoyuan; Liu, Hongsheng; Huang, Yonglan; Liu, Li
- 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.
- Subjects
BRAIN abnormalities; LYSOSOMAL storage diseases; CORD blood transplantation; HEMATOPOIETIC stem cell transplantation; TRANSPLANTATION of organs, tissues, etc.
- Publication
Metabolic Brain Disease, 2017, Vol 32, Issue 2, p317
- ISSN
0885-7490
- Publication type
Article
- DOI
10.1007/s11011-017-9968-5