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

Table 1

Laboratory parameters.

Onset	Laboratory findings
At 3-month old
Complete blood count (CBC)	Hb 8.2 g/dl, WBC 17,700/mm^3 (P 35%, L 60%, monocyte 5%), platelets 521,000/mm^3
Coagulation studies	PT 63.8 sec (N 11–14), INR 5.23 aPTT 69.5 sec (N 23–31), TT 10.6 sec (N 8.7–11.1)
Factor assay (% activity)	FII 5.50% (N 70–140), FVII 10.90% (N 70–140); FIX 7.10% (N 50–200), FX 4.70% (N 50–200); FV 121% (N 70–130), FVIII 148.1% (N 50–200)
Liver function test	AST 55 U/L, ALT 15 U/L, albumin 4.2 g/dL, total birilubin 0.6 mg/dL, direct birilubin 0.3 mg/dL
Fat-soluble vitamins level	Vitamin A 0.87 µmol/L (N 0.8–2.9), vitamin E 14.70 µmol/L (N 8–43), vitamin D (25-OH) 7.51 ng/mL (N 30–100)
At 1-year old
Complete blood count (CBC)	Hb 7.8 g/dl, WBC 16,200/mm^3 (P 92%, L 6%, monocyte 2%), platelets 427,000/mm^3
Coagulation studies	PT 11 sec (N 11–14), INR 1.1 aPTT 26 sec (N 23–31), TT 10 sec (N 8.7–11.1)
Liver function test	AST 45 U/L, ALT 17 U/L, albumin 2.5 g/dL, total birilubin 0.6 mg/dL, direct birilubin 0.3 mg/dL
Immunological studies	IgG 1,236 mg/dL (N 700–1,000), IgM 161 mg/dL (N 40–230), IgA 102 mg/dL (N 70–400)
Ascitic fluid parameter	Straw color, serum ascites albumin gradient (SAAG) 0.5 g/dL, WBC 1,600/mm^3 with 100% mononuclear cell adenosine deaminase (ADA) 83 U/L (N 0–33)