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.

中文翻译：

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难治性皮外幼年黄色肉芽肿伴多发颅内结节性病变，已成功用 2-氯脱氧腺苷治疗。

幼年黄色肉芽肿病 (JXG) 是一种罕见的组织细胞疾病，通常仅限于皮肤，但有些 JXG 病例会累及其他器官。累及中枢神经系统 (CNS) 的 JXG 罕见且治疗不充分。涉及中枢神经系统的难治性 JXG 的最佳治疗方法仍然未知。我们在此报告一例难治性小儿皮外 JXG (extra-JXG) 累及 CNS 并伴有多个颅内肿块，经 2-氯脱氧腺苷治疗后获得长期完全缓解。2-氯脱氧腺苷在脑脊液中具有良好的 CNS 渗透性，显然是一种有效治疗伴有 CNS 受累的 extra-JXG 和全身性 JXG (sJXG) 的药物。