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Images in Neurology
July 2005

Spinal Cord Atrophy in Adrenomyeloneuropathy

Arch Neurol. 2005;62(7):1157. doi:10.1001/archneur.62.7.1157

A 33-year-old man presented with a 5-year history of a progressive gait disorder, urge incontinence, and impotence. The results of a neurological and electrophysiological examination revealed a transverse sensorimotor myelopathy, a subclinical polyneuropathy, and a slight dysexecutive syndrome. Cerebrospinal fluid findings were normal. While cerebral magnetic resonance imaging (MRI) showed only minor periventricular white matter abnormalities, spinal MRI disclosed a marked atrophy of the entire spinal cord (Figure). Laboratory testing revealed normal absolute plasma levels of C26:0 very long-chain fatty acids, but increased C26:0/C22:0 and C24:0/C22:0 fatty acid ratios. No signs of adrenocortical dysfunction were found. Genetic testing showed a mutation in the ABCD1 gene.

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