Adrenomyeloneuropathy

Case contributed by Dr Maximiliano Darakdjian

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.

Imaging 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.

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Case information

rID: 87559
Published: 11th Mar 2021
Last edited: 11th Mar 2021
Inclusion in quiz mode: Included
Institution: Resobaires

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