Four-month-old infant with chronic granulomatous disease and invasive aspergillosis with bone involvement

Chronic granulomatous disease is the inborn error of immunity with the highest frequency of invasive aspergillosis. In this context, invasive aspergillosis is frequent in adolescence, with rare cases before one year of age. We present a case of chronic granulomatous disease and invasive aspergillosis in a four-month-old infant. The patient was a male infant living in jail with his hypothyroid mother. He presented with a tumor in the left axillary region when he was four months old, and the chest X-ray suggested rib fractures. The patient was hospitalized on suspicion of child abuse. The chest computed tomography scan showed axillary abscess, rib osteolysis, pneumonia, and pulmonary nodules. He was treated with broad-spectrum antibiotics, and then he was discharged. Four months later, he was readmitted with fever and extension of the purulent abscess to the left scapular region; a computed tomography scan showed worsening images. Aspergillus fumigatus was isolated from the abscess pus, leading to an invasive aspergillosis diagnosis. The patient was treated with voriconazole for 28 days, and then he was discharged. The chronic granulomatous disease was diagnosed by the dihydrorhodamine test. The mutated gene causing the inborn error of immunity was CYBB with the variant c.80_83del/Y; the mother was the carrier (c.80_83del/WT). At 12 months of age, the patient was readmitted for invasive aspergillosis, refractory to treatment, and died. This exceptional case teaches us how environmental conditions determine exposure to infectious agents in chronic granulomatous disease patients. Also, it illustrates that invasive aspergillosis can develope in infants with this pathology and should be treated aggressively.