Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child
Joint Authors
Green, Todd D.
Ozolek, John A.
Cassidy, Elaine A.
Lin, P. Ling
Buchert, Andrew R.
Moreau, J. F.
Venkat, Veena L.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-01-28
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function.
This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation.
We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD.
Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy.
Genetic testing revealed a novel mutation in the CYBB gene underlying his condition.
This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children.
American Psychological Association (APA)
Moreau, J. F.& Ozolek, John A.& Lin, P. Ling& Green, Todd D.& Cassidy, Elaine A.& Venkat, Veena L.…[et al.]. 2013. Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child. Case Reports in Immunology،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-508826
Modern Language Association (MLA)
Moreau, J. F.…[et al.]. Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child. Case Reports in Immunology No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-508826
American Medical Association (AMA)
Moreau, J. F.& Ozolek, John A.& Lin, P. Ling& Green, Todd D.& Cassidy, Elaine A.& Venkat, Veena L.…[et al.]. Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child. Case Reports in Immunology. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-508826
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-508826