To investigate and chronicle the frequency of neurological manifestations, imaging findings, treatments and outcomes in published ECD patients presenting with neurological symptoms.

Erdheim-Chester disease (ECD) is a rare, sporadic, non-Langerhans cell histiocytosis that can have various presentations and have higher mortality in patients presenting with neurological symptoms. We perform a systematic review and report a case with exclusive CNS involvement.

A literature search was performed in the PubMed from January 1980 to June 2021 for articles publishing ECD cases presenting with neurological manifestations.  We also report a 46 -year-old woman presenting with intracranial hemorrhage and mass, who had disease progression on corticosteroid and interferon but responded to cobimetinib.

We analyzed data of 40 patients.  Cranial neuropathies and ataxia were the most frequent clinical manifestations. 50% of the symptomatic ECD CNS lesions were intraparenchymal and nearly 33% of patients died due to disease itself or complications

CNS involvement may be the only manifestation of ECD and sometimes may require repeat biopsy with IHC testing for excellent treatment outcome.