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[Striatal involvement on MRI in adrenomyeloneuropathy]
T Fukutake1, R Sakakibara, K Katayama
1Department of Neurology, School of Medicine, Chiba University, Japan.
No to Shinkei = Brain and Nerve
|July 1, 1991
Summary
Adrenomyeloneuropathy (AMN), a variant of adrenoleukodystrophy (ALD), presents with progressive spastic paraparesis and peripheral nerve issues. This case highlights unusual MRI findings in the striatum and internal capsules, aiding AMN diagnosis.
Area of Science:
- Neuroscience
- Genetics
- Endocrinology
Background:
- Adrenomyeloneuropathy (AMN) is an adult-onset progressive neurological disorder, a variant of X-linked adrenoleukodystrophy (ALD).
- AMN primarily affects the pyramidal tracts, leading to spastic paraparesis and peripheral nerve involvement.
Observation:
- A case report detailing a patient with AMN, presenting with progressive gait disturbance, erectile impotence, and diffuse baldness starting in adolescence.
- Clinical examination revealed lower extremity weakness, hyperactive reflexes, Babinski signs, and sensory impairment in the lower legs.
- Laboratory tests showed mild hyperlipidemia, a blunted cortisol response to ACTH, and elevated very long-chain fatty acids.
Findings:
- Nerve conduction studies indicated peripheral polyneuropathy with mild loss of myelinated fibers and thinned myelin on sural nerve biopsy.
- Serial MRI scans revealed unusual areas of high signal in the right striatum and bilateral internal capsules.
Implications:
- This case underscores the importance of integrating clinical, electrophysiological, and advanced neuroimaging findings for accurate AMN diagnosis.
- The observed MRI signal abnormalities in the striatum and internal capsules may represent a specific pattern of white matter involvement in AMN.
- Further research into these specific MRI findings could improve early detection and understanding of AMN pathogenesis.