Refractory Extracutaneous Juvenile Xanthogranuloma With Multiple Intracranial Nodular Lesions Successfully Treated With 2-Chlorodeoxyadenosine.

Juvenile xanthogranulomatosis (JXG) is a rare histiocytic disease that is usually limited to the skin, but some JXG cases involve other organs. JXG involving the central nervous system (CNS) is rare and its treatment is inadequate. The optimum treatment for refractory JXG involving the CNS remains unknown. We report here a case of refractory pediatric extracutaneous JXG (extra-JXG) involving the CNS with multiple intracranial masses treated with 2-chlorodeoxyadenosine resulting in achievement of long-term complete remission. 2-Chlorodeoxyadenosine, with favorable CNS penetration in the cerebrospinal fluid, is apparently an effective treatment for extra-JXG and systemic JXG (sJXG) with CNS involvement.