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Undiagnosed Chronic Granulomatous Disease,Burkholderia cepacia complexPneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association

Authors :
Guillaume F Bouvet
Maxime Maignan
Yves Berthiaume
Colin Verdant
Michael Van Spall
Source :
Case Reports in Pulmonology, Vol 2013 (2013), Case Reports in Pulmonology
Publication Year :
2013
Publisher :
Hindawi Limited, 2013.

Abstract

Background. Chronic granulomatous disease is a rare inherited disorder of the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. The clinical course of the disease is marked by recurrent infections, includingBurkholderia cepacia complexinfection.Case Report. Here we report the case of a 21-year-old male hospitalized for aBurkholderia cepacia complexpneumonia. Despite the broad spectrum antibiotic treatment, fever continued and patient’s condition worsened. Anemia and thrombocytopenia developed together with hypofibrinogenemia. The patient died of multiple organ dysfunction 17 days after his admission. Autopsy revealed hemophagocytosis, suggesting the diagnosis of acquired hemophagocytic lymphohistiocytosis. DNA analysis showed a deletion in the p47phox gene, confirming the diagnosis of autosomal recessive chronic granulomatous disease.Discussion. In addition to chronic granulomatous disease, recent findings have demonstrated thatBurkholderia cepacia complexcan decrease activity of the NADPH oxidase. Interestingly, hemophagocytic lymphohistiocytosis is characterized by an impaired function of the T-cell mediated inflammation which is partly regulated by the NADPH oxidase. Physicians should therefore pay particular attention to this deadly association.

Details

ISSN :
20906854 and 20906846
Volume :
2013
Database :
OpenAIRE
Journal :
Case Reports in Pulmonology
Accession number :
edsair.doi.dedup.....852dafe160bd267e2e56eeffad82a4e3