Adrenoleukodystrophy mimicking multiple sclerosis.
We report a 47 year old woman who was initially diagnosed as having multiple sclerosis. She has subsequently been found to be heterozygous for adrenoleukodystrophy (ALD). The female carrier state for ALD may be associated with intermittent symptoms and it is therefore important to consider ALD in patients diagnosed as multiple sclerosis.
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D003951:Diagnostic Errors; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000175:diagnosis*; D010375:Pedigree