Adrenomyeloneuropathy Presenting With Adrenal Insufficiency.
10.5535/arm.2013.37.4.563
- Author:
Hee Dong PARK
1
;
Sang Jun PARK
;
Yong Min CHOI
;
Jin Ho KANG
Author Information
1. Department of Rehabilitation Medicine, Seoul Medical Center, Seoul, Korea. wisdom1409@hanmail.net
- Publication Type:Case Report
- Keywords:
Adrenoleukodystrophy;
Adrenal insufficiency;
Spastic paraparesis
- MeSH:
Adrenal Insufficiency;
Adrenoleukodystrophy;
Erectile Dysfunction;
Evoked Potentials, Somatosensory;
Fatty Acids;
Gait Disorders, Neurologic;
Male;
Paraparesis, Spastic;
Peripheral Nervous System Diseases;
Peroxisomal Disorders;
Spinal Cord;
Tibial Nerve;
Urinary Incontinence, Urge
- From:Annals of Rehabilitation Medicine
2013;37(4):563-566
- CountryRepublic 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.
