RT Journal Article
SR Electronic
T1 Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 396
OP 406
DO 10.1136/practneurol-2022-003398
VO 22
IS 5
A1 Antonia S Carroll
A1 Carolynne M Doherty
A1 Julian Blake
A1 Stephen J Hunt
A1 Chandrashekar Hoskote
A1 Feargal McNicholl
A1 Rahul Phadke
A1 Oonagh Sheehy
A1 Fion D Bremner
A1 Shirley D'Sa
A1 Christopher McNamara
A1 Mary M Reilly
YR 2022
UL http://pn.bmj.com/content/22/5/396.abstract
AB 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.