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

Abstract

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.

Este caso me desorientó

“…Como tratamiento se han probado varias drogas sistémicas como la cladribina y vinblastine con buena respuesta; como último recurso se puede usar la radioterapia, la cual en niños se prefiere evitar. 13,15,19 Como diagnóstico diferencial debe tenerse en consideración la ERD, que suele presentarse en paciente entre 20 y 40 años, con lesiones cutáneas sistémicas y linfadenopatías cervicales, fiebre, sudoración nocturna, compromiso óseo y dural. Suele ser autolimitada, con períodos de exacerbaciones y remisión.…”

Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma

“…Traditionally, the first‐line treatment of choice has been LCH‐based chemotherapy (vinblastine, prednisone, and mercaptopurine) for SJXG. There have also been reports on the successful use of cladribine and cytarabine for treating SJXG with CNS involvement 20 . Other management options include surgery, radiotherapy, and high doses of corticosteroids, cyclosporin A, methotrexate, and etoposide, all of which require greater awareness of their side effects when selected, especially in infancy and early childhood.…”