Adrenomyeloneuropathy

Case contributed by Maximiliano Darakdjian
Diagnosis certain

Presentation

Female carrier of X-linked adrenoleukodystrophy being studied for evaluation of possible adrenomyeloneuropathy.

Patient Data

Age: 40 years
Gender: Female
mri

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.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.