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Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease
  1. Antonia S Carroll1,2,
  2. Carolynne M Doherty2,
  3. Julian Blake3,4,
  4. Stephen J Hunt5,
  5. Chandrashekar Hoskote6,
  6. Feargal McNicholl7,
  7. Rahul Phadke8,
  8. Oonagh Sheehy9,
  9. Fion D Bremner10,
  10. Shirley D'Sa11,
  11. Christopher McNamara11,
  12. Mary M Reilly2
  1. 1Brain and Mind Centre, Faculty of Medicine and Health, Translational Research Collective, The University of Sydney, Sydney, New South Wales, Australia
  2. 2MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK
  3. 3Neurophysiology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK
  4. 4Clinical Neurophysiology, Norfolk and Norwich University Hospital NHS Trust, Norwich, UK
  5. 5Neurology, Belfast Health and Social Care Trust, Belfast, UK
  6. 6Neuroradiology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK
  7. 7Haematology, Western Health and Social Care Trust, Londonderry, UK
  8. 8Neuropathology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK
  9. 9Haematology, Belfast Health and Social Care Trust, Belfast, UK
  10. 10Neuro-ophthalmology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK
  11. 11Cancer Division, University College London Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to Dr Antonia S Carroll, The University of Sydney Brain and Mind Centre, Camperdown, NSW 2050, Australia; antonia.carroll{at}sydney.edu.au

Abstract

The histiocytoses are a group of rare disorders characterised by the accumulation of neoplastic or non-neoplastic activated histiocytes in various tissues. Phenotypes vary widely from cutaneous lesions or lymphadenopathy that regress spontaneously to disseminated disease with poor prognosis. Neurological symptoms can be a presenting feature or appear during the course of disease. We present a challenging diagnostic and management case of Rosai-Dorfman-Destombes disease in a 48-year-old woman with a relapsing, partially steroid-responsive syndrome comprising patchy, non-length-dependent radiculoneuropathy with diffuse pachymeningitis and widespread systemic disease, and recent dramatic response to novel mitogen-activated kinase pathway inhibition. We discuss the clinical characteristics, diagnosis, recent breakthroughs in pathogenesis and emerging treatment options for Rosai-Dorfman disease and for the histiocytoses with neurological sequelae, including Langerhans cell histiocytosis and Erdheim-Chester disease.

  • ERDHEIM-CHESTER DISEASE
  • HISTOPATHOLOGY
  • NEUROPATHY
  • NEUROPHYSIOLOGY
  • CLINICAL NEUROLOGY

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Footnotes

  • Contributors ASC acquired the data and drafted the manuscript. CMD assisted with data acquisition and manuscript revision. CH, FDB and RP provided figures and manuscript revision. JB, SJH, FMcN, OS, SDS and CMcN provided manuscript revision. MMR conceptualised the article and provided manuscript revision. All authors approved the final manuscript for publication.

  • 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 Commissioned. Externally peer reviewed by Emma Tallantyre, Cardiff, UK.

  • 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.

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