Successful Treatment of Relapsed Disseminated Juvenile Xanthogranuloma with Central Nervous System Involvement

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder primarily affecting children, typically presenting as self-limiting skin lesions.However, extracutaneous JXG (extra-JXG) or systemic JXG (sJXG) can involve various organs, including the central nervous system (CNS), leading to high morbidity and mortality, especially in cases of CNS involvement.Treatment approaches for CNS-JXG, including surgical resection, chemotherapy, and radiation therapy, lack consensus, with reports of relapsed or refractory cases being rare.Here, we present the case of a 2-year-old girl with refractory extra-JXG involving the CNS, characterized by multiple intracranial lesions.Initial chemotherapy with prednisolone and vinblastine showed no response, and second-line therapy, including cytarabine and vincristine combined with surgical resection, was also ineffective.However, a 6-cycle third-line chemotherapy regimen incorporating vincristine and carboplatin led to a positive response, with stable disease status, and normal growth and neurodevelopment observed.Our findings suggest that combined chemotherapy with carboplatin and vincristine is a feasible and well-tolerated treatment strategy for patients with CNS-JXG.