title: Combination of a Haploidentical Stem Cell Transplant With Umbilical Cord Blood for Cerebral X-Linked Adrenoleukodystrophy.
abstract: BACKGROUND
  Childhood cerebral X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disorder that affects central nervous system myelin and the adrenal cortex. Hematopoietic stem cell transplantation is the best available curative therapy if performed during the early stages of disease. Only 30% of patients who might benefit from a hematopoietic stem cell transplant will have a full human leukocyte antigen-matched donor, which is considered to be the best choice.
  
  
  METHODS
  We present a 5-year-old boy with cerebral X-linked adrenoleukodystrophy whose brain magnetic resonance imaging severity score was 7 and who needed an immediate transplantation without an available full human leukocyte antigen-matched donor. We combined haploidentical and umbilical cord blood sources for transplantation and saw encouraging results. After transplantation, the patient showed neurological stability for 6 months and the level of very long chain fatty acids had decreased. By 1 year, the patient appeared to gradually develop cognition, motor, and visual disturbances resulting from possible mix chimerism.
  
  
  CONCLUSIONS
  Transplantation of haploidentical stem cells combined with the infusion of umbilical cord blood is a novel approach for treating cerebral X-linked adrenoleukodystrophy. It is critical to monitor posttransplant chimerism and carry out antirejection therapy timely for a beneficial clinical outcome.
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: Min-Yan
authors.initials: MY
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 Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Yan-Na
authors.initials: YN
authors.lastname: Cai
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China.
authors.forename: Cui-Li
authors.initials: CL
authors.lastname: Liang
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou, China. Electronic address: liliuxia_2015@foxmail.com.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D000326:Adrenoleukodystrophy / Q000628:therapy*; D064987:Cell- and Tissue-Based Therapy / Q000379:methods*; D002540:Cerebral Cortex / Q000473:pathology*; D002675:Child, Preschool; D005312:Fetal Blood / Q000502:physiology*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D008297:Male
keywords: ABCD1; CCALD; X-linked adrenoleukodystrophy; haploidentical transplantation