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

Case Reports in Immunology

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

Biology

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