title: The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.
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.
authors.affiliation: Department of Medicine, Peninsula College of Medicine and Dentistry, Exeter, Devon, UK.
authors.forename: Salil
authors.initials: S
authors.lastname: Patel
authors.affiliation: Department of Neurology, Royal Devon and Exeter Hospital, Exeter, Devon, UK.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Gutowski
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D005684:Gait; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020336:Paraparesis, Spastic / Q000175:diagnosis; D010641:Phenotype; D013131:Spine / Q000473:pathology