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Neurological picture
Multiple cranial nerve enlargement in Charcot-Marie-Tooth disease
  1. William Huynh1,2,
  2. Lynette Masters3
  1. 1 Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia
  2. 2 Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia
  3. 3 I-MED Radiology, Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia
  1. Correspondence to Dr William Huynh, The University of Sydney Brain and Mind Centre, Camperdown, NSW 2050, Australia; william.huynh{at}sydney.edu.au

https://doi.org/10.1136/jnnp-2020-325360

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    Hypertrophy of peripheral nerves are commonly reported in patients with demyelinating forms of Charcot-Marie-Tooth disease (CMT).1 Herein, an under-recognised association with hypertrophy of multiple cranial nerves in a patient with CMT is described.

    A 39-year-old otherwise healthy man presented with a 2-month history of tension-type headaches without other associated neurological symptoms. Examination showed normal visual acuity but mild blunting of the nasal disc margins bilaterally on funduscopy. No other cranial nerve abnormalities were elicited. In the lower limbs, there was prominent pes cavus deformity involving both feet (figure 1A) associated with subtle ankle dorsiflexion weakness and impaired distal proprioception. Power in the upper limbs was normal and deep tendon reflexes were globally depressed.

    Figure 1

    (A) Lower limb of patient demonstrating classical pes cavus foot deformity; (B) MRI Brain: Coronal fat suppressed T2-weighted sequence showing enlargement of the maxillary nerves at the foramen rotundum; (B and C) Coronal …

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    Footnotes

    • Contributors WH: Design and conceptualised manuscript; patient management; drafted and final edit of the manuscript. LM: Analysed imaging data and provided images; edit of manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.