Disseminated xanthogranuloma with multiple lesions of the central nervous system

Abstract

A 7-year-old boy, who developed diffuse papules on his trunk and extremities 1 year ago, was admitted to our hospital owing to polydipsia and polyuria. Cranial magnetic resonance imaging revealed a swelling of the pituitary gland and multiple macular lesions in the cerebellar hemisphere. Histopathological examination of a papule resected from the waist revealed the accumulation of skin dendrocyte-derived histiocytes. Multiple lesions were also detected in the skin and central nervous system; therefore, the patient was diagnosed as having disseminated juvenile xanthogranuloma (JXG). After 6 weeks of multiple-drug chemotherapy, the lesions in the pituitary gland and papules decreased in size. Maintenance therapy was provided for 1 year. Six months after the cessation of maintenance therapy, the patient is alive and shows no signs of disease progression. Because JXG affects the central nervous system, histological analysis of intracranial lesions or lesions elsewhere is mandatory for the proper selection of treatment.