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Erdheim-Chester disease: misdiagnosed as multiple sclerosis
  1. Jason Yang1,
  2. Louise Imlay-Gillespie2,
  3. Judith Gerarda Dierkes3,
  4. Tien Kheng Khoo4,5
  1. 1Medicine, The University of Queensland - Saint Lucia Campus, Saint Lucia, Queensland, Australia
  2. 2Haematology, Lismore Base Hospital, Lismore, New South Wales, Australia
  3. 3Rehabilitation, Ballina District Hospital, Ballina, New South Wales, Australia
  4. 4School of Medicine and Dentistry, Griffith University, Gold Coast, Queensland, Australia
  5. 5Graduate School of Medicine, University of Wollongong, Wollongong, New South Wales, Australia
  1. Correspondence to Dr Jason Yang, Medicine, The University of Queensland - Saint Lucia Campus, Saint Lucia, Queensland, Australia; drtwyang{at}gmail.com

Abstract

Erdheim-Chester disease is a rare histiocytic neoplasm with a wide range of clinical manifestations. Due to its rarity and protean characteristics, this condition often presents a diagnostic challenge. A Caucasian woman in her late 60s presented with unsteadiness, dysphagia and dysarthria. She was initially diagnosed with secondary progressive multiple sclerosis but deteriorated over 2 years with a potential lack of therapeutic response. Subsequent investigations resulted in the diagnosis of Erdheim-Chester disease. She received targeted therapy with BRAF and MAPK-pathway inhibitors. Her initial response to treatment has been positive with functional gains and reduced disease burden on MR brain imaging, and with no significant adverse effects.

  • ERDHEIM-CHESTER DISEASE
  • MULTIPLE SCLEROSIS
  • DYSPHAGIA
  • MRI
  • HAEMATOLOGY

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Footnotes

  • Contributors JY collected clinical data/images and drafted the manuscript. JGD and LI-G reviewed and edited the manuscript. TKK assisted in drafting the manuscript and data collection.

  • 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.

  • Provenance and peer review Not commissioned; externally peer reviewed by Antonia Carroll, Sydney, Australia.