Annals of Rehabilitation Medicine  2013;37(4):563-566

doi:10.5535/arm.2013.37.4.563

Adrenomyeloneuropathy Presenting With Adrenal Insufficiency.

Hee Dong PARK 1 ; Sang Jun PARK ; Yong Min CHOI ; Jin Ho KANG

Affiliations

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Keywords

Adrenoleukodystrophy; Adrenal insufficiency; Spastic paraparesis

Country

Republic of Korea

Language

English

Abstract

Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunction. We experienced the AMN case of a 33-year-old man presenting bilateral progressive spastic paraparesis, impotence and urge incontinence with primary adrenal failures, as confirmed by increased serum of VLCFA concentrations. Considering that somatosensory evoked potentials in posterior tibial nerve was the only abnormal finding in electrophysiologic findings when compared with the severe spastic gait pattern shown, it is necessary to follow up with electrophysiologic studies.