NDLI: Chronic Granulomatous Disease

Content Provider	PubMed Central
Author	Agarwal, Shreya
Copyright Year	2015
Abstract	Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency disorder characterized by defective functioning of NADPH oxidase enzyme in the phagocytes. This leads to recurrent infections by catalase positive organisms and later, granuloma formation in multiple organs. This condition usually presents in the age group of 2-5 y and is uncommon in neonates. In this case report, we describe a rare case of CGD in a 40-day-old male child who initially presented with a history of erythematous pustular rash on left forearm and refusal to feeds. He remained unresponsive to regular antibiotics. CT chest and abdomen revealed multiple ill-defined lesions suggestive of granulomas or developing abscesses. Immunodeficiency workup showed negative Nitroblue Tetrazolium test and positive Dihydrorhodamine test (flow cytometry). A diagnosis of CGD was then made and treated accordingly. The aim of this report is to highlight the fact that although it is rare for CGD to present at such an early age, but in a neonate with multiple granulomas or abscesses, it should be considered as a differential and worked up accordingly. Early diagnosis and treatment can significantly improve the prognosis.
Related Links	http://dx.doi.org/10.7860/jcdr/2015/12139.5945
Starting Page	1
File Format	PDF
ISSN	2249782X
e-ISSN	0973709X
Journal	Journal of Clinical and Diagnostic Research : JCDR
Issue Number	5
Volume Number	9
Language	English
Publisher	JCDR Research and Publications (P) Limited
Publisher Date	2015-01-01
Access Restriction	Open
Rights Holder	JCDR Research and Publications (P) Limited
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Clinical Biochemistry

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