Co-Existent Central and Peripheral Demyelination: Related or Coincidental?

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

The clinical case described is a coexistence of central and peripheral demyelination fulfilling the criteria for two different disorders.  The patient presented with symptoms of late-onset hereditary sensorimotor neuropathy 1A with no family history, but genetic testing confirmed the presence of a duplication of the PMP22 gene on chromosome 17 and the patient was subsequently diagnosed with multiple sclerosis without an acute exacerbation. The case suggests a possible interplay between genetic factors and autoimmune responses in these diseases and argues for further investigation to elucidate the links between subtypes of Charcot-Marie-Tooth disease and multiple sclerosis and to advance diagnostic approaches in demyelinating diseases.

The detailed clinical data are presented in two tables and one figure. The discussion is factual, and the authors cite four other reported rare cases of central nervous system demyelination in patients with Charcot-Marie-Tooth subtypes.

The paper will be of interest to clinicians and researchers.

 

Author Response

Thank you very much for your revision. 

Reviewer 2 Report

Comments and Suggestions for Authors

This case report is well-written and the reviewer has following minor suggestions to further polish the report:

 

1.      The reviewer recommends including some raw signals from the nerve conduction studies and electromyography of the patient, alongside the table, to better illustrate the results.

2.      It is advisable for the author to add labels to the MRI image to help readers more easily identify the key points.

 

3.      The reviewer suggests that the author elaborate further on potential directions for future research that could elucidate the connection between these disparate conditions.

Author Response

Comment 1: The reviewer recommends including some raw signals from the nerve conduction studies and electromyography of the patient, alongside the table, to better illustrate the results.

Answer: thank you for the recommendation, we have added the waveforms to further demonstrate the lack of conduction block and temporal dispersion. 

Comment 2: It is advisable for the author to add labels to the MRI image to help readers more easily identify the key points.

Answer: thank you for the recommendation, we have added reg arrow to point out the MRI findings. 

Comment 3: The reviewer suggests that the author elaborate further on potential directions for future research that could elucidate the connection between these disparate conditions.

Answer: we have further elaborate in the last paragraph of the discussion about potential approaches that can help investigate a potential relationship between these two conditions.