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Case report
Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome
  1. Trishal Jeeva-Patel1,
  2. Paul Freund1 and
  3. Edward A Margolin1,2
  1. 1Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
  2. 2Departent of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Edward A Margolin; edmargolin{at}gmail.com

Abstract

We present a rare case of myoclonic epilepsy with ragged red fibres with high level of heteroplasmy presenting with optic neuropathy and a rare phenotype of lipomatosis. Cutaneous lipomas are typically thought of as a benign/isolated entity and this case emphasises importance of considering mitochondrial disease in all patients with lipomatosis especially in the presence of other systemic abnormalities.

  • epilepsy and seizures
  • neuroopthalmology
  • ophthalmology

http://dx.doi.org/10.1136/bcr-2020-240463

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    Footnotes

    • Contributors All authors have contributed to the planning, draft and case reporting related to the work described in the 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.