macrophage activation syndrome as a complication of chronic granulomatous disease: a case report

Chronic granulomatous disease (cgd) presents with granuloma formation and lethal infections. it is inherited in an autosomal or x-linked recessive pattern. we describe a 10-month-old patient with a fatal secondary hlh as a cgd primary manifestation. we carried out an autopsy and found noncaseating granulomas, an aspergilloma in the lung, and hemophagocytosis. we performed a dhr assay on the patient’s mother and grandmother, showing a bimodal pattern conclusive of x-linked cgd. thus, our definitive diagnosis was cgd complicated by macrophage activation syndrome. cgd is caused by phagocytes’ inability to control pathogens, resulting in granulomas. secondary hlh is a severe complication and could be characterized by the proliferation of macrophages and t lymphocytes and the production of proinflammatory cytokines. the early suspicion of this presentation helps establish a specific treatment, and the study of the carriers helps determine the etiology.