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Neurology
Oculomasticatory rhythmic movements, insomnia and stroke-like episodes in a patient with POLG mutation
  1. Rithvik Ramesh1,
  2. Chitneni Amanmahanya1,
  3. Vengadakrishnan Krishnamoorthy2,
  4. Vasanthan Krishnan2,
  5. Sathyamoorthy Palani2 and
  6. Lakshmi Narasimhan Ranganathan1
  1. 1Neurology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India
  2. 2Internal Medicine, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India
  1. Correspondence to Dr Rithvik Ramesh; rithvy{at}gmail.com

Abstract

The POLG mutation, a leading cause of mitochondrial diseases, exhibits a wide-ranging age of onset and a complex clinical presentation. We encountered an atypical clinical profile in an elderly man with a POLG mutation, characterised by a stroke-like episode, chronic insomnia and transient oculomasticatory rhythmic movement. History revealed chronic constipation since his 50s and progressive bilateral ophthalmoplegia since his early 60s. Subsequently, he had experienced acute encephalopathy and later developed chronic insomnia. The present neurological examination showed bilateral complete ophthalmoplegia, ptosis, and rhythmic ocular and jaw movements. Imaging indicated findings suggestive of a stroke-like episode and eventual genetic analysis revealed a homozygous missense mutation in the POLG gene. This case expands the clinical spectrum of POLG mutations in individuals over 60 years, showcasing the rare combination of a stroke-like episode, chronic insomnia and oculomasticatory rhythmic movement.

  • Genetics
  • Neurology
  • Neuro genetics

https://doi.org/10.1136/bcr-2023-259426

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    Footnotes

    • Contributors The following authors were directly involved in the patient’s care—RR, CA, VeK, VaK, SP and LNR. The following authors are the clinicians in charge of the clinical care of the patient, who supervised the preparation of the manuscript, were responsible for obtaining informed consent from the patient/guardian/family members and are responsible for the overall integrity of the content of the manuscript—RR and VeK. The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content—RR, CA, VeK, VaK, SP and LNR. The following authors gave final approval of the manuscript—RR, CA, VeK, VaK, SP and LNR.

    • 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.