PMC4322376_01
4-month-old infant with cough and expectoration, diagnosed with DiGeorge syndrome. Frontal radiograph shows consolidation involving the right upper zone (arrow).
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F1
Chest radiograph frontal projection showed bilateral air space opacities with right upper lobe consolidation suggestive of pneumonia [Figure 1].
4-month-old infant with cough and expectoration, diagnosed with DiGeorge syndrome. (a) Contrast-enhanced axial image of CT chest in mediastinal window shows absent thymus (asterisk). (b) Non-contrast axial image of CT chest in lung window shows consolidation involving the right upper lobe (right arrow).
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F2
Computed tomography (CT) of the chest with intravenous contrast showed hypoplastic thymus [Figure 2a] and right upper lobe consolidation [Figure 2b].
4-month-old infant with cough and expectoration, diagnosed with DiGeorge syndrome. (a) CT scan-coronal maximum intensity projection (MIP) in arterial phase of chest shows aberrant right subclavian artery (asterisk). (b) CT scan volume-rendered image shows aberrant right subclavian artery (asterisk).
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F3
CT chest with maximum intensity projection (MIP) and volume-rendered (VR) images showed aberrant right subclavian artery [Figure 3a and b].
4-month-old infant with cough and expectoration, diagnosed with DiGeorge syndrome. Fluorescent in situ hybridization (FISH) study shows deletion of chromosome 22q11.2 (arrow)
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F4
The results showed deletion of chromosome 22q11.2 [Figure 4], which confirmed the diagnosis of this rare entity.