Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy.
Mol Genet Metab Rep
; 28: 100778, 2021 Sep.
Article
em En
| MEDLINE
| ID: mdl-34221897
ABSTRACT
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 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 (C240/C220) and 0.077 (C260/C220) in leukocytes. Sanger sequencing confirmed the pathogenic variant in ABCD1 (NM_000033.4p.Gly512Ser). After multidisciplinary discussions over the treatment options, we performed a cord blood HCT with a reduced intensity conditioning (fludarabine, melphalan and brain-sparing total body irradiation). He was fully recovered with >90% chimerism of donor leukocytes at 55 days after HCT. He experienced three times of generalized seizures after discharge, that has been well controlled for 2 years without other complications or neurocognitive deteriorations.CONCLUSION:
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.
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
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article