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Metab Brain Dis. 2017 Apr;32(2):317-320. doi: 10.1007/s11011-017-9968-5. Epub 2017 Feb 25.

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

Author information

1
Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
2
Department of Pediatric Hematology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
3
Medical Imaging Department, Guangzhou Women and Children's Medical Center, Guangzhou, China.
4
Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China. xxhuang321@163.com.
5
Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China. liliuchina@qq.com.

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.

KEYWORDS:

Cord blood transplantation; FUCA1; Fucosidosis; Genetic; Lysosomal storage disorder

PMID:
28238202
DOI:
10.1007/s11011-017-9968-5
[Indexed for MEDLINE]

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