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Case Reports
. 2021 Nov 16;9(32):9997-10005.
doi: 10.12998/wjcc.v9.i32.9997.

Gastrointestinal symptoms as the first sign of chronic granulomatous disease in a neonate: A case report

Er-Yan Meng  1 , Zi-Ming Wang  2 , Bing Lei  1 , Li-Hong Shang  3
Affiliations
Case Reports

Gastrointestinal symptoms as the first sign of chronic granulomatous disease in a neonate: A case report

Er-Yan Meng et al. World J Clin Cases. .

Abstract

Background: Chronic granulomatous disease (CGD) characterized by recurrent and severe bacterial and fungal infections is most common in childhood.

Case summary: We reported a 24-d-old male infant who developed gastrointestinal symptoms as the first sign of CGD.

Conclusion: Gastrointestinal symptoms representing the first sign of CGD are very rare, and prompt diagnosis and treatment with broad-spectrum antibiotics were of crucial importance.

Keywords: Chronic granulomatous disease; Diarrhea; Fever; Gastrointestinal symptoms; Infant; Neonate.

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Conflict of interest statement

Conflict-of-interest statement: The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Positive and lateral view of lower digestive tract radiography. Dilatation of the rectum and distal colon was not observed.
Figure 2
Figure 2
Colonoscopy and colonic biopsy showing chronic mucosal inflammation without granulomas, fissures, or bowel wall thickening. Hematoxylin and eosin stain, magnification: 20 ×.
Figure 3
Figure 3
Computed tomography scan of the thorax. A: Bilateral diffuse, scattered nodules and consolidation areas in different lung areas; B: The reduction of nodules and consolidations in the lungs.
Figure 4
Figure 4
Histograms of the dihydrorhodamine assay of granulocytes from the male pediatric patient, his mother and father. Histograms of the dihydrorhodamine (DHR) assay of the patient’s granulocyte (A) revealed the absence of fluorescence upon granulocyte stimulation. The DHR assay of granulocytes from the patient’s mother (B) and father (C) showed that the ratio of activated neutrophils was 99.6% and 98.5%, respectively.
Figure 5
Figure 5
Analysis of a CYBB gene exon of the patient and his parents. Chromatogram of a CYBB exon of the patient showed a missense mutation, c.997T>C (p.S333P). A: Patient; B: The patient’s mother; C: The patient’s father.
Figure 6
Figure 6
Clinical time course of the patient. CRP: C-reactive protein; CT: Computed tomography; DHR: Dihydrorhodamine; VRCZ: Voriconazole; PIPC/TAZ: Piperacillin/tazobactam.
See this image and copyright information in PMC

References

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