title: Symptomatic female heterozygotes for adrenoleukodystrophy: A report of two unrelated cases and review of the literature.
abstract: We report two cases of unrelated female heterozygotes for adrenoleukodystrophy (ALD) who have developed progressive neurological disease. Both presented with a progressive myelopathy in midlife and one has since also developed a peripheral neuropathy. Both women had elevated very long chain fatty acid (VLCFA) levels. One patient has been on Lorenzo's oil for 2 years with normalisation of her plasma VLCFA assays but her condition has progressed relentlessly and the second discontinued Lorenzo's oil after 1 month due to unacceptable weight loss. Review of the literature reveals that significant neurological symptoms develop in 15-20% of female heterozygotes and that abnormalities on neurological examination occur in up to 55%. Despite a not excessively rare estimated gene frequency of 1 20,000 the diagnosis of a symptomatic heterozygote for ALD is rarely made in the absence of an affected male relative with most patients misdiagnosed as suffering from multiple sclerosis.
authors.affiliation: Department of Clinical Neurosciences, St Vincent's Hospital, Victoria, Australia.
authors.forename: T J
authors.initials: TJ
authors.lastname: O'Brien
authors.forename: P G
authors.initials: PG
authors.lastname: Gates
authors.forename: E
authors.initials: E
authors.lastname: Byrne