Presentation
Female carrier of X-linked adrenoleukodystrophy being studied for evaluation of possible adrenomyeloneuropathy.
Patient Data
Age: 40 years
Gender: Female
From the case:
Adrenomyeloneuropathy
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MRI shows only spinal cord atrophy affecting the thoracic cord.
Axial FLAIR of the brain is normal.
Case Discussion
Female patient carrier of X-link adrenoleukodystrophy diagnosed 13 years ago by elevated levels of very long-chain fatty acids and positive family history of two sons with adrenoleukodystrophy.
Imaging shows spinal cord atrophy involving its thoracic segment, but the brain shows no abnormalities. These findings suggest adrenomyeloneuropathy.