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A 35-year-old man was admitted because of loss of hearing in the left ear. The patient had been known to have familial hypercholesterolemia for at least 12 years. Computerized axial tomography of the brain showed a large tumor occupying in the left mastoid region. Surgical intervention revealed xanthogranuloma, histologically. Xanthogranuloma is classified as a kind of normocholesterolemic xanthomatoses. Hypercholesterolemia with adult xanthogranuloma (AXG) is extremely rare. Moreover intracranial involvement with AXG has been reported in only one previous case. We wish to report on the possibility of a new syndrome that has characteristics common to primary xanthomatoses, entities which have heretofore been considered etiologically distinct.

Adult xanthogranulomatous intracranial lesion involving familial hypercholesterolemia.