Adult-Onset Central Nervous System Erdheim-Chester Disease Successfully Treated With Cladribine and Cytarabine: Case...

Erdheim-Chester disease (ECD) is a rare histiocytic disorder with heterogeneous clinical manifestations. Central nervous system (CNS) involvement is associated with poor prognosis. Although targeted therapies have improved outcomes in patients with mitogen-activated protein kinase (MAPK) pathway alterations, optimal treatment strategies for adult patients with CNS ECD are still lacking. We describe a 24-year-old female with isolated CNS ECD without pathogenic genetic alterations. The disease was refractory to corticosteroids, radiotherapy, and cladribine monotherapy. Combination therapy with cladribine and cytarabine (Ara-C) led to clinical improvement and remission on radiologic imaging, and toxicities were acceptable. This case suggests that combination chemotherapy may represent an optimal therapeutic strategy for adult patients with CNS ECD. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.