An unusual cause of granulomatous disease Andrew

Background: Chronic granulomatous disease (CGD) is an inherited disorder of phagocytic cells caused by an inability to generate active microbicidal oxygen species required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections with tissue granuloma formation. Case presentation: We describe a case of X-linked Chronic granulomatous disease (CGD) diagnosed in an 18-year-old male. He initially presented with granulomatous disease mimicking sarcoidosis and was treated with corticosteroids. He subsequently developed Burkholderia cepacia complex pneumonia and further investigation confirmed a diagnosis of CGD. Conclusion: Milder phenotypes of CGD are now being recognised. CGD should be considered in patients of any age with granulomatous diseases, especially if there is a history of recurrent or atypical infection. Background Chronic granulomatous disease (CGD) is an inherited disorder of phagocytic cells resulting in an inability of phagocytes to undergo the respiratory burst required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections as well as persistent tissue granuloma formation. It was initially described in the 1950s as a syndrome of recurrent infections, hypergammaglobulinemia, hepatosplenomegaly, and lymphadenopathy in boys who invariably died in the first decade of life [1]. The majority of cases are detected before the age of five, with 90% detected before the age of fifteen with the diagnosis usually considered due to a history of recurrent, unusual or persistent infections. CGD is caused by mutations in components of the NADPH oxidase system. Identification of this defect has allowed milder phenotypes to be identified which may be associated with milder disease or atypical features resulting in subsequent delay in presentation and diagnosis until adulthood [2-4]. Case presentation A 21-year-old gentleman initially was referred with weight loss, fevers and hepatosplenomegaly. He had previously been investigated for lymphadenopathy. A left inguinal lymph node excision 3 years earlier had shown "unusual Published: 2 March 2007 BMC Clinical Pathology 2007, 7:1 doi:10.1186/1472-6890-7-1 Received: 1 September 2006 Accepted: 2 March 2007 This article is available from: http://www.biomedcentral.com/1472-6890/7/1 © 2007 Mclean-Tooke et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.