Erdheim-Chester Disease with Isolated CNS Involvement: A Systematic Review of the Literature

Anam Haque; Carlos A Pérez; Thejasvi A Reddy; Rajesh K Gupta

doi:10.3390/neurolint14030060

Erdheim-Chester Disease with Isolated CNS Involvement: A Systematic Review of the Literature

Neurol Int. 2022 Sep 5;14(3):716-726. doi: 10.3390/neurolint14030060.

Authors

Anam Haque¹, Carlos A Pérez², Thejasvi A Reddy¹, Rajesh K Gupta³

Affiliations

¹ McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
² Department of Neurology, Maxine Mesinger Multiple Sclerosis Comprehensive Care Center, Baylor College of Medicine, Houston, TX 77030, USA.
³ Division of Multiple Sclerosis and Neuroimmunology, Department of Neurology, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

Abstract

Erdheim-Chester disease (ECD) is a rare, sporadic, non-Langerhans cell histiocytosis that can have various presentations and higher mortality in patients presenting with neurological symptoms. We performed a systematic review to investigate and chronicle the frequency of neurological manifestations, imaging findings, treatments, and outcomes in published ECD patients presenting with neurological symptoms. A PubMed literature search was conducted for articles (published between January 1980 and June 2021) on ECD cases presenting with neurological manifestations. We analyzed the data of 40 patients, including our patient. Cranial neuropathies and ataxia were the most frequent clinical manifestations. A total of 50% of the symptomatic ECD CNS lesions were intraparenchymal and nearly 33% of patients died due to the disease itself or complications. CNS involvement may be the only manifestation of ECD and sometimes may require a repeat biopsy with IHC testing for excellent treatment outcomes.

Keywords: CNS; Erdheim–Chester disease (ECD); histiocytosis.

Publication types

Review

Grants and funding

No funding was received for the preparation of this manuscript and related work.