Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder.
Females who are heterozygous for adrenoleukodystrophy (ALD) can be identified biochemically. Since most carriers for this disease are asymptomatic, their diagnosis usually occurs only after neurologically abnormal male relatives have been investigated. We describe a woman with a chronic nonprogressive spinal cord syndrome secondary to the ALD heterozygote state. The neurologic condition in this patient suggests that the diagnosis of ALD should be considered in women with evidence of white matter disease.
D000326:Adrenoleukodystrophy / Q000150:complications / Q000235:genetics*; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D013118:Spinal Cord Diseases / Q000209:etiology*