Erdheim-chester disease with extensive intraaxial brain stem lesions presenting as a progressive cerebellar syndrome

Abstract

We report a rare case of Erdheim‐Chester disease (ECD) presenting as a progressive cerebellar syndrome and diabetes insipidus. On magnetic resonance imaging, a 7‐mm extraaxial, enhancing mass was seen enveloping the right vertebral artery and was confirmed at autopsy to represent an adventitial xanthoma with lipid‐laden, foamy histiocytes. The cerebellar syndrome most likely resulted from extensive histiocytic infiltration of the pons, particularly the basis pontis and middle cerebellar peduncles.