Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series.

ABSTRACT:

Background

Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm characterized by recurrent alterations in the MAPK (mitogen-activating protein kinase) pathway. The existing literature about the neuro-oncological spectrum of ECD is limited.

Methods

We present retrospective clinical, radiographic, pathologic, molecular, and treatment data from 30 patients with ECD neurohistiocytic involvement treated at a tertiary center.

Results

Median age was 52 years (range, 7-77), and 20 (67%) patients were male. Presenting symptoms included ataxia in 19 patients (63%), dysarthria in 14 (47%), diabetes insipidus in 12 (40%), cognitive impairment in 10 (33%), and bulbar affect in 9 (30%). Neurosurgical biopsy specimens in 8 patients demonstrated varied morphologic findings of

SUBMITTER: Bhatia A 

PROVIDER: S-EPMC7339889 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature