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Case Reports: Unusual presentation of more common disease/injury
Motor neuron disease mimics in practice: a case series
  1. Chris Aitchison1,2,
  2. Charles Romanowski3,
  3. Alexander Barker4 and
  4. Thomas Jenkins5,6
  1. 1Faculty of Medicine, Dentistry and Health, Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK
  2. 2Department of Acute Medicine, St Thomas' Hospital, London, UK
  3. 3Department of Radiology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  4. 4Department of Neurophysiology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  5. 5Department of Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
  6. 6Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK
  1. Correspondence to Dr Thomas Jenkins; t.m.jenkins{at}sheffield.ac.uk

Abstract

In the majority of cases of motor neuron disease (MND), diagnosis is clinical and unambiguous. However, given the gravity of the diagnosis, it is crucial that treatable mimics are differentiated accurately. We present three cases referred to our clinic with possible MND with unusual features that led to an alternative diagnosis. (1) A middle-aged man with swallowing, then speech problems and foot drop. Tongue movements were slow and electromyography (EMG) showed fibrillations/positive sharp waves. Following investigation, a tonsillar tumour involving the tongue root was identified, and the foot drop improved, suggesting unrelated common peroneal nerve palsy (related to weight loss) or lumbar radiculopathy. (2) An elderly man presenting with progressive unilateral leg weakness and localised fasciculations on EMG. Following investigation, a high-grade brain glioma was diagnosed. (3) An elderly woman presenting with progressive quadriparesis over 18 months with fibrillations and chronic denervation on EMG. Symmetrical weakness and short duration response to immunotherapy led to further serological investigation and a diagnosis of anti-GD1a motor neuropathy. She was treated successfully with intravenous immunoglobulin, cyclophosphamide and rituximab and is now in remission.

  • Neurology
  • Motor neurone disease
  • Neuroimaging
  • Neuromuscular disease

https://doi.org/10.1136/bcr-2021-247441

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    Footnotes

    • Contributors All authors contributed equally to the production of the article. All authors have read and approve the article and its contents. TJ was the consultant neurologist in charge of the care of the three patients involved in the case series. He was involved in the writing of the article and the submission. CR is a consultant neuroradiologist who reviewed the cases and imaging and provided analysis for the writing of the article. CA is a junior doctor who authored the article and led the submission process. AB was the consultant neurophysiologist involved who reviewed the cases and neurophysiology and provided analysis for the writing of the article.

    • 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.