title: Brain abnormalities in fucosidosis: transplantation or supportive therapy?
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.
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Minyan
authors.initials: M
authors.lastname: Jiang
authors.affiliation: Department of Pediatric Hematology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Sha
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Pediatric Hematology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Yunting
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Yongxian
authors.initials: Y
authors.lastname: Shao
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Hu
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Xiaoyuan
authors.initials: X
authors.lastname: Zhao
authors.affiliation: Medical Imaging Department, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China. xxhuang321@163.com.
authors.forename: Yonglan
authors.initials: Y
authors.lastname: Huang
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China. liliuchina@qq.com.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation / Q000379:methods*; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000209:etiology; D018450:Disease Progression; D005260:Female; D005645:Fucosidosis / Q000000981:diagnostic imaging / Q000473:pathology* / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D016896:Treatment Outcome
keywords: Cord blood transplantation; FUCA1; Fucosidosis; Genetic; Lysosomal storage disorder