Ann Rehabil Med.  2013 Aug;37(4):563-566. 10.5535/arm.2013.37.4.563.

Adrenomyeloneuropathy Presenting With Adrenal Insufficiency

• Park HD
• Park SJ
• Choi YM
• Kang JH

• KMID: 2266613
• DOI: http://doi.org/10.5535/arm.2013.37.4.563

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.

Keyword

Adrenoleukodystrophy; Adrenal insufficiency; Spastic paraparesis

MeSH Terms

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
Fatty Acids

Figure

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  Fig. 1 The patient shows hyperpigmentation in gingiva (A), tongue (B), creases of hand (C), and areolae (D).

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  Fig. 2 T-spine magnetic resonance imaging shows a T2-weighted sagittal image of intramedullary signal changes along entire thoracic cord, which are suggestive of myelopathy.

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