Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease

Antonia S Carroll; Carolynne M Doherty; Julian Blake; Stephen J Hunt; Chandrashekar Hoskote; Feargal McNicholl; Rahul Phadke; Oonagh Sheehy; Fion D Bremner; Shirley D'Sa; Christopher McNamara; Mary M Reilly

doi:10.1136/practneurol-2022-003398

Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease

Pract Neurol. 2022 May 9:practneurol-2022-003398. doi: 10.1136/practneurol-2022-003398. Online ahead of print.

Authors

Antonia S Carroll^{1

2}, Carolynne M Doherty², Julian Blake^{3

4}, Stephen J Hunt⁵, Chandrashekar Hoskote⁶, Feargal McNicholl⁷, Rahul Phadke⁸, Oonagh Sheehy⁹, Fion D Bremner¹⁰, Shirley D'Sa¹¹, Christopher McNamara¹¹, Mary M Reilly²

Affiliations

¹ Brain and Mind Centre, Faculty of Medicine and Health, Translational Research Collective, The University of Sydney, Sydney, New South Wales, Australia antonia.carroll@sydney.edu.au.
² MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
³ Neurophysiology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
⁴ Clinical Neurophysiology, Norfolk and Norwich University Hospital NHS Trust, Norwich, UK.
⁵ Neurology, Belfast Health and Social Care Trust, Belfast, UK.
⁶ Neuroradiology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
⁷ Haematology, Western Health and Social Care Trust, Londonderry, UK.
⁸ Neuropathology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
⁹ Haematology, Belfast Health and Social Care Trust, Belfast, UK.
¹⁰ Neuro-ophthalmology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
¹¹ Cancer Division, University College London Hospitals NHS Foundation Trust, London, UK.

PMID: 35534197
DOI: 10.1136/practneurol-2022-003398

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.

Keywords: CLINICAL NEUROLOGY; ERDHEIM-CHESTER DISEASE; HISTOPATHOLOGY; NEUROPATHY; NEUROPHYSIOLOGY.