Chronic granulomatous disease presenting as fulminant Aspergillus pneumonitis: a lethal combination?

Case reports of two patients with unusually late initial presentation of chronic granulomatous disease with fulminant Aspergillus pneumonia.

Medical notes; retrospective study.

Identical pattern of clinical presentation in two patients referred for support with extracorporeal membrane oxygenation (ECMO). Our Institutional Review Board waived the need for consent.

Two school-aged boys presented with features of, and were initially treated, for community-acquired pneumonia. However, the disease course was rapidly progressive to fulminant respiratory failure and because both failed conventional intensive care management, they were referred to ECMO support. Although both died of evolving multiorgan failure, ECMO support allowed open lung biopsy leading to diagnosis of invasive Aspergillus pneumonia and chronic granulomatous disease.

Failure of adequate therapy for acute community-acquired pneumonia and rapid progression to respiratory failure should lead to the possibility of fungal etiology. Congenital immunodeficiency may present for the first time late in life, so acute invasive pulmonary aspergillosis in the absence of known risk factors should lead to consideration of chronic granulomatous disease regardless of patient age.