The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement

2.50
Hdl Handle:
http://hdl.handle.net/11287/594029
Title:
The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement
Authors:
Patel, Salil B; Gutowski, Nicholas J.
Abstract:
Two 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.
Citation:
BMJ Case Rep. 2015 May 12;2015.
Publisher:
BMJ
Journal:
BMJ case reports
Issue Date:
12-May-2015
URI:
http://hdl.handle.net/11287/594029
DOI:
10.1136/bcr-2015-209732
PubMed ID:
25969497
Additional Links:
http://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=25969497
Note:
RD&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.
Type:
Case Report
Language:
eng
ISSN:
1757-790X
Appears in Collections:
2015 RD&E publications; Neurology; Medical students

Full metadata record

DC FieldValue Language
dc.contributor.authorPatel, Salil Ben
dc.contributor.authorGutowski, Nicholas J.en
dc.date.accessioned2016-01-19T12:38:49Zen
dc.date.available2016-01-19T12:38:49Zen
dc.date.issued2015-05-12en
dc.identifier.citationBMJ Case Rep. 2015 May 12;2015.en
dc.identifier.issn1757-790Xen
dc.identifier.pmid25969497en
dc.identifier.doi10.1136/bcr-2015-209732en
dc.identifier.urihttp://hdl.handle.net/11287/594029en
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.language.isoengen
dc.publisherBMJen
dc.relation.urlhttp://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=25969497en
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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