Erdheim-Chester disease: 25-year history with early CNS involvement

C M Rice; C A Hall; P McCoubrie; S A Renowden; N Cohen; N J Scolding

doi:10.1136/bcr-2016-216747

Erdheim-Chester disease: 25-year history with early CNS involvement

BMJ Case Rep. 2016 Oct 4:2016:bcr2016216747. doi: 10.1136/bcr-2016-216747.

Authors

C M Rice¹, C A Hall², P McCoubrie², S A Renowden², N Cohen², N J Scolding³

Affiliations

¹ Department of Clinical Neuroscience, University of Bristol, Bristol, UK.
² North Bristol NHS Trust, Bristol, UK.
³ Department of Clinical Neuroscience, University of Bristol, Bristol, UK North Bristol NHS Trust, Bristol, UK.

Abstract

We report a case of Erdheim-Chester disease (ECD) with a 25-year history following initial presentation with diabetes insipidus and brainstem involvement. The exceptionally long history is particularly notable, given that ECD is a life-threatening disorder and there is a recognised association between central nervous system involvement and poor outcome. The case is a timely reminder of the presenting features of the condition, given the emergence of potential new treatment options.

2016 BMJ Publishing Group Ltd.

Publication types

Case Reports

MeSH terms

Brain Diseases / etiology*
Diabetes Insipidus / complications
Erdheim-Chester Disease / complications*
Fatal Outcome
Female
Humans
Magnetic Resonance Imaging
Middle Aged