Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child
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 formatio...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2013/927897 |
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| _version_ | 1832548355876585472 |
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| author | J. F. Moreau John A. Ozolek P. Ling Lin Todd D. Green Elaine A. Cassidy Veena L. Venkat Andrew R. Buchert |
| author_facet | J. F. Moreau John A. Ozolek P. Ling Lin Todd D. Green Elaine A. Cassidy Veena L. Venkat Andrew R. Buchert |
| author_sort | J. F. Moreau |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ca4c2f3d07fc4209b426e246aedf8d7a |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-ca4c2f3d07fc4209b426e246aedf8d7a2025-02-03T06:14:16ZengWileyCase Reports in Immunology2090-66092090-66172013-01-01201310.1155/2013/927897927897Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old ChildJ. F. Moreau0John A. Ozolek1P. Ling Lin2Todd D. Green3Elaine A. Cassidy4Veena L. Venkat5Andrew R. Buchert6School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USADivision of Pathology, Children’s Hospital of Pittsburgh of UPMC, One Children’s Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USADivision of Infectious Disease, Children’s Hospital of Pittsburgh of UPMC, One Children’s Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USADivision of Pulmonary Medicine, Allergy and Immunology, Children’s Hospital of Pittsburgh of UPMC, One Children’s Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USADivision of Rheumatology, Children’s Hospital of Pittsburgh of UPMC, One Children’s Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USADivision of Gastroenterology, Children’s Hospital of Pittsburgh of UPMC, One Children’s Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USAThe Paul C. Gaffney Diagnostic Referral Service, Children’s Hospital of Pittsburgh of UPMC, One Children’s Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USAChronic 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.http://dx.doi.org/10.1155/2013/927897 |
| spellingShingle | J. F. Moreau John A. Ozolek P. Ling Lin Todd D. Green Elaine A. Cassidy Veena L. Venkat Andrew R. Buchert Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child Case Reports in Immunology |
| title | Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child |
| title_full | Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child |
| title_fullStr | Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child |
| title_full_unstemmed | Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child |
| title_short | Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child |
| title_sort | chronic granulomatous disease presenting as aseptic ascites in a 2 year old child |
| url | http://dx.doi.org/10.1155/2013/927897 |
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