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A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Adrenomyeloneuropathy presenting with adrenal insufficiency.
Hee Dong Park1, Sang Jun Park, Yong Min Choi
1Department of Rehabilitation Medicine, Seoul Medical Center, Seoul, Korea.
Annals of Rehabilitation Medicine
|September 11, 2013
Summary
Adrenomyeloneuropathy (AMN), an X-linked adrenoleukodystrophy variant, involves spinal cord and nerve damage, leading to mobility and dysfunction. Early electrophysiologic studies are crucial for diagnosis and management of this VLCFA accumulation disorder.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Adrenomyeloneuropathy (AMN) is an X-linked inherited peroxisomal disorder.
- It is characterized by the accumulation of very long chain fatty acids (VLCFA).
- AMN primarily affects the spinal cord's long tracts and peripheral nerves, causing spastic paraparesis and dysfunction.
Purpose of the Study:
- To present a case of AMN in a 33-year-old male.
- To highlight the clinical presentation and diagnostic findings.
- To emphasize the importance of electrophysiologic studies in AMN diagnosis.
Main Methods:
- Case report of a 33-year-old male patient.
- Clinical assessment including neurological examination and evaluation of adrenal function.
- Biochemical analysis of serum VLCFA concentrations.
- Electrophysiologic studies, specifically somatosensory evoked potentials (SSEPs).
Main Results:
- The patient presented with progressive spastic paraparesis, impotence, and urge incontinence.
- Primary adrenal failure was confirmed.
- Elevated serum VLCFA concentrations were observed.
- SSEPs in the posterior tibial nerve were the sole abnormal electrophysiologic finding despite severe gait impairment.
Conclusions:
- AMN diagnosis was confirmed by clinical symptoms, elevated VLCFA, and adrenal failure.
- The limited electrophysiologic findings underscore the need for comprehensive follow-up studies.
- Electrophysiologic monitoring is essential for tracking disease progression in AMN.
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