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dc.contributor.authorPatel, Salil Ben
dc.contributor.authorGutowski, Nicholas J.en
dc.identifier.citationBMJ Case Rep. 2015 May 12;2015.en
dc.description.abstractTwo patients are described, a mother and son, who were initially clinically diagnosed with hereditary spastic paraparesis. This was rectified after very long chain fatty acid testing confirmed adrenomyeloneuropathy (AMN). The son's initial symptoms were characteristic of AMN (the commonest phenotype) but progressed to show symptoms of cerebral involvement. This evolution from non-cerebral to cerebral AMN is recognised in the medical literature and is increasingly important to consider in light of the availability of potential treatments such as haematopoietic stem cell transplantation.en
dc.titleThe difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvementen
dc.typeCase Reporten
dc.identifier.journalBMJ case reportsen
dc.description.noteRD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted.en

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