Key result
Primary adrenal insufficiency marks the initial presentation of adrenomyeloneuropathy in a 33-year-old man.
Case Report (n=1)
Highlights the presentation of adrenomyeloneuropathy with adrenal insufficiency and the discrepancy between severe clinical symptoms and electrophysiologic findings.
Supports considering AMN in young men with progressive spastic paraparesis; leaves open optimal management strategies.
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.
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Park et al. (2013) conducted a case report in Adrenomyeloneuropathy with primary adrenal insufficiency (n=1). A 33-year-old man presented with primary adrenal insufficiency as the initial feature of adrenomyeloneuropathy, confirmed by elevated serum very long chain fatty acid concentrations.
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