X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant

Abstract

Vitamin K deficiency bleeding (VKDB) is a life-threatening condition and can be found in children as early as neonatal period with early onset intracranial hemorrhage (ICH). Here, we reported a 1-year-old boy who initially presented with intracranial hemorrhage secondary to vitamin K deficiency since 3 months of age and later found to have XL-CGD which was complicated by malabsorption due to severe vaccine-associated mycobacterial disease.

Figure 1

(a) CT brain showed hyperdensity lesion size of 1.5 × 1.8 cm at the left temporal lobe. (b) Chest X-ray revealed patchy infiltration at the left upper lobe.

Figure 2

The DHR assay of the patient showed complete absence of DHR shift after granulocyte stimulation. The SI was 1.21 which was compatible with XL-CGD. The DHR assay of the patient's mother showed bimodal distribution which was compatible with the XL-CGD carrier. The stimulation index (SI) was calculated by dividing the mean channel of fluorescence intensity in the stimulated cell over the mean channel of fluorescence intensity in the unstimulated cell.

Figure 3

Electropherogram of the exon 7 of CYBB gene revealed a hemizygous c.676C > T (p.Arg226Ter) nonsense mutation in the patient's DNA (a), a heterozygous for the same mutation in the maternal DNA (b), and normal DNA sequence (c).