Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy

Yutaro Yada, Michiko Torio, Yuhki Koga, Fumiya Yamashita, Takuya Ichimura, Katsuhide Eguchi, Masataka Ishimura, Yuichi Mushimoto, Akio Hiwatashi, Momoko Sasazuki, Ryutaro Kira, Yasunari Sakai, Shouichi Ohga

研究成果: Contribution to journalArticle査読


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 (C24:0/C22:0) and 0.077 (C26:0/C22:0) in leukocytes. Sanger sequencing confirmed the pathogenic variant in ABCD1 (NM_000033.4:p.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.

ジャーナルMolecular Genetics and Metabolism Reports
出版ステータス出版済み - 9 2021

All Science Journal Classification (ASJC) codes

  • 分子生物学
  • 遺伝学
  • 内分泌学


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