Disseminated pulmonary aspergillosis in a previously healthy young woman

A young woman presented with widespread bilateral infiltrates on chest X-ray and a high fever. Investigations for bacterial, mycobacterial, and fungal infections were negative. A biopsy of the lung showed granulomas, and corticosteroid medication was given on vital indication because of the rapidly progressive disease. There was a dramatic response, with regression of the chest X-ray changes and the fever and the patient was discharged on her own request with a tentative diagnosis of acute sarcoidosis. One month later she was admitted in an alarming state with almost completely consolidated lung and died a few hours later. Autopsy revealed generalized aspergillosis. Renewed extensive investigation of the earlier lung biopsy revealed hyphae. After her death, the case history of an elder brother was traced and revealed that he had died at early age in a generalized granulomatous disease. Although no definite diagnosis can be made, it seems likely that both siblings suffered from a defect in the immune system, probably chronic granulomatous disease of the autosomal recessive type. This disease is sometimes found in young adults without a clear history of earlier infections.