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Neurology
Inferior olivary hypertrophy and palatal tremor in cerebrotendinous xanthomatosis
  1. Riya Sharma1,
  2. Tanish Modi2,
  3. Ritu Shree1 and
  4. Chirag K Ahuja3
  1. 1 Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India
  2. 2 GMCH, Chandigarh, India
  3. 3 Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India
  1. Correspondence to Dr Ritu Shree; ritushree18{at}gmail.com

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder, and palatal tremor, as well as inferior olivary hypertrophy in its clinical spectrum, is exceptional. A man in his 30s who presented with bilateral lower limb weakness and spasticity, progressively enlarging swelling in bilateral Achilles region and a history of intellectual disability and childhood bilateral cataracts was found to have a palatal tremor on examination and inferior olivary hypertrophy on neuroimaging. This case demonstrates some of the classical clinical and neuroimaging findings, as well as some uncommon features associated with CTX.

  • Movement disorders (other than Parkinson's)
  • Neuroimaging
  • Brain stem / cerebellum
  • Neuro genetics

https://doi.org/10.1136/bcr-2024-262226

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    Footnotes

    • X @riya_o94

    • Contributors RiyS was responsible for the detailed writing and management of the case. TM was responsible for manuscript writing and data collection. RitS contributed to planning and conduct. CKA was involved in planning as an author. RitS is the guarantor.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • 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.