Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy.
ALD, Adrenoleukodystrophy
ASD, autism spectrum disorder
Adrenoleukodystrophy
Brain-sparing irradiation
CBT, cord blood transplantation
GVHD, graft failure and graft-versus-host disease
HCT, hematopoietic cell transplantation
HDC, hydrocortisone
HLA, human leukocyte antigen
Hematopoietic cell transplantation
Loes score
Reduced-intensity conditioning
VLCFA, very long-chain saturated fatty acids
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
22
05
2021
revised:
17
06
2021
accepted:
17
06
2021
entrez:
5
7
2021
pubmed:
6
7
2021
medline:
6
7
2021
Statut:
epublish
Résumé
Adrenoleukodystrophy (ALD) is an X-linked disorder characterized by rapidly progressive deterioration of neurocognitive functions and premature death. In addition to the difficulty in identifying the earliest signs of ALD, treatment-associated exacerbation of neurological symptoms has been an obstacle to achieve successful hematopoietic cell transplantation (HCT) for affected children. We report a 9-year-boy with ALD. He presented with impairment in social skills compatible to the diagnosis of autism spectrum disorder from 3 years of age. He showed progressive strabismus, slurred speech and dysmetria at 6 years of age. The head MRI showed symmetrical T2-hyperintense lesions in the occipital white matters with a gadolinium enhancement, which extended to the internal capsules. The Loes score was thus calculated as 13. Very-long-chain-fatty-acids were increased to 1.800 (C24:0/C22:0) and 0.077 (C26:0/C22:0) in leukocytes. Sanger sequencing confirmed the pathogenic variant in For patients with ALD on a borderline indication for HCT, brain-sparing irradiation might be an alternative option in reduced intensity conditioning. Careful decision-making process and tailored conditioning are critical for the successful outcome of HCT for children with ALD.
Sections du résumé
BACKGROUND
BACKGROUND
Adrenoleukodystrophy (ALD) is an X-linked disorder characterized by rapidly progressive deterioration of neurocognitive functions and premature death. In addition to the difficulty in identifying the earliest signs of ALD, treatment-associated exacerbation of neurological symptoms has been an obstacle to achieve successful hematopoietic cell transplantation (HCT) for affected children.
CASE REPORT
METHODS
We report a 9-year-boy with ALD. He presented with impairment in social skills compatible to the diagnosis of autism spectrum disorder from 3 years of age. He showed progressive strabismus, slurred speech and dysmetria at 6 years of age. The head MRI showed symmetrical T2-hyperintense lesions in the occipital white matters with a gadolinium enhancement, which extended to the internal capsules. The Loes score was thus calculated as 13. Very-long-chain-fatty-acids were increased to 1.800 (C24:0/C22:0) and 0.077 (C26:0/C22:0) in leukocytes. Sanger sequencing confirmed the pathogenic variant in
CONCLUSION
CONCLUSIONS
For patients with ALD on a borderline indication for HCT, brain-sparing irradiation might be an alternative option in reduced intensity conditioning. Careful decision-making process and tailored conditioning are critical for the successful outcome of HCT for children with ALD.
Identifiants
pubmed: 34221897
doi: 10.1016/j.ymgmr.2021.100778
pii: S2214-4269(21)00072-0
pmc: PMC8242033
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100778Informations de copyright
© 2021 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
None.
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