Combination of a Haploidentical Stem Cell Transplant With Umbilical Cord Blood for Cerebral X-Linked Adrenoleukodystrophy

• Published in: Pediatric neurology Vol. 53; no. 2; pp. 163 - 165.e1
• Main Authors: Jiang, Hua, MD, Jiang, Min-yan, MD, Liu, Sha, MD, Cai, Yan-na, PhD, Liang, Cui-li, MD, Liu, Li, MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2015
• Subjects: ABCD1; Adrenoleukodystrophy - therapy; CCALD; Cell- and Tissue-Based Therapy - methods; Cerebral Cortex - pathology; Child, Preschool; Fetal Blood - physiology; haploidentical transplantation; Hematopoietic Stem Cell Transplantation - methods; Humans; Male; Neurology; Pediatrics; X-linked adrenoleukodystrophy; haploidentical transplantation; ABCD1; CCALD; X-linked adrenoleukodystrophy
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2015.05.002

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. Patient Description 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. Conclusion 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.