Dr. Zohaib Siddiqi talks with Dr. Catarina Bernardes about a case involving a 35-year-old woman presenting with personality changes and gait impairment.

Show citation:

Bernardes C, Lemos JM, Santo GC. Clinical Reasoning: A 35-Year-Old Woman With Personality Change and Gait Impairment. Neurology. 2025;104(2):e210252. doi:10.1212/WNL.0000000000210252

Show transcript:

Dr. Zohaib Siddiqi:

Hi, everyone. My name is Zohaib Siddiqi and I'm a fifth-year neurology resident and a part of the Neurology® Resident and Fellow Section Editorial Board.

I just finished interviewing Catarina Bernardes about her article, Clinical Reasoning: A 35-year-old Woman with Personality Change and Gait Impairment.

Catarina, can you tell us the main points of the article?

Dr. Catarina Bernardes:

So in this article, we discussed the case of a 35-year-old woman who presented with a three-year history of walking difficulties. On examination, she had signs of a frontal temporal dysfunction, a dorsal lateral myelopathy, optic atrophy, and pes cavus.

Her brain and spinal cord MRI was completely normal, but her son's brain MRI was being studied for spastic paraparesis showed signs of hypomyelination involving the subcortical U fibers. Given the suggestive inheritance pattern, we considered an X-linked leukoencephalopathy and central nervous system hypomyelination points to Pelizaeus-Merzbacher disease.

Important learning points. When differentiating leukoencephalopathies, remember that hypomyelinating disorders often have less pronounced hypointensity on T2 and hypointensity on T1, and in demyelinating disorders, there is very prominent hyperintensity on T2 and hypointensity on T1.

Also, Pelizaeus-Merzbacher is a hypomyelinating disorder affecting the subcortical U fibers, while X-linked adrenoleukodystrophy presents a demyelinating pattern sparing the subcortical U fibers and involving mainly the parietooccipital regions.

Dr. Zohaib Siddiqi:

Thanks so much for that summary, Catarina. A lot of learning points there.

For those of you who want to learn more about the case, you can listen to the full-length podcast available now on all streaming platforms and find the article titled, Clinical Reasoning: A 35-year-old Woman with Personality Change and Gait Impairment on the Neurology® Resident Fellow Website.

Thanks so much for joining today, and see you next time.