Abstract
Background
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder. Male patients develop adrenocortical insufficiency (80 % before 18 years), a chronic myelopathy (adrenomyeloneuropathy (AMN); all in adulthood), or progressive cerebral demyelination (cerebral ALD; 40 % before 18 years). Cerebral ALD is treated with haematopoetic cell transplantation (HCT). It is unknown if AMN still develops in patients with X-ALD that underwent HCT for cerebral ALD in childhood.
Patients and methods
A retrospective observational study was performed by selecting all adult patients with X-ALD in our cohort that underwent HCT in childhood.
Results
This retrospective study found that three out of five patients in our cohort who underwent HCT in childhood developed signs of myelopathy in adulthood.
Conclusion
These data suggest that HCT for cerebral ALD in childhood does not prevent the onset of AMN in X-ALD in adulthood.
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Communicated by: Jutta Gaertner
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van Geel, B.M., Poll-The, B., Verrips, A. et al. Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. J Inherit Metab Dis 38, 359–361 (2015). https://doi.org/10.1007/s10545-014-9797-1
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DOI: https://doi.org/10.1007/s10545-014-9797-1