Introduction: Juvenile xanthogranuloma (JXG) is a disorder of histiocytic proliferation that affects young children and usually presents as spontaneously regressing cutaneous lesions. JXG with systemic involvement is a rare entity associated with significant morbidity and mortality. Intracranial solitary lesions are uncommon, and when comorbid with multiple lesions of the central nervous system in young children, it has an extremely worse prognosis. Case Presentation: We have reported here an unusual case of a 6-year-old boy who initially presented with the complaints of headache, vomiting, seizure, and speech disorder without cutaneous and other organ involvement and a neurological tendency to sleep. Acute hydrocephalus was detected in his brain CT. As an emergency intervention, ventriculo-peritoneal shunt operation was performed on the patient. His postoperative MRI revealed a disseminated intracranial disease involving the extensive dural, sellar-suprasellar region, the orbit, and the brain parenchyma. The patient accordingly underwent a pterional approach for open biopsy and for the mass tissue diagnosis. Histopathology reports were consistent with JXG. Unfortunately, the patient succumbed to the disseminated disease within 2 months of the JXG diagnosis. Conclusion: JXG is a disorder that usually affects the skin. Intracranial lesion can be simple or have multiple involvement. This is a rare case of fatal disseminated multiple intracranial JXG without cutaneous and other organ manifestations. The presentation as a sellar-suprasellar, extensive dural, orbit, and parenchymal involvement at the time of diagnosis is unusual and rarely described in the literature.
A Rare Case of ocular cystinosis with systemic involvement