Infantile Central Nervous System Juvenile Xanthogranuloma With Somatic CSF1R Mutation Responsive to Imatinib Monotherapy.
Sima Vazquez, Kayla Etienne, Long Di et al.
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Case in brief
A 3-month-old male presented with fever, lymphadenopathy, and macrocephaly due to multiple dural-based masses causing obstructive hydrocephalus. Surgical intervention included endoscopic third ventriculostomy and craniotomy for tissue diagnosis, confirming juvenile xanthogranuloma (JXG). Genetic analysis revealed a somatic CSF1R mutation. Treatment with liquid imatinib resulted in complete resolution of the lesions, with sustained response over three years.
What made this case unusual
This case highlights the presence of a somatic CSF1R mutation in CNS juvenile xanthogranuloma, a finding not previously reported in this context.
Diagnostic / clinical pearl
Clinicians should consider juvenile xanthogranuloma in infants presenting with CNS masses and associated symptoms, especially when genetic mutations like CSF1R are identified.
Why it matters
The successful use of imatinib in this case suggests potential therapeutic options for CNS juvenile xanthogranuloma, warranting further investigation into targeted treatments.