06 October 2022
: Case report
Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
Unusual clinical course, Challenging differential diagnosis, Rare disease, Congenital defects / diseases
Mohammed Shahab Uddin


DOI: 10.12659/AJCR.935840
Am J Case Rep 2022; 23:e935840
Table 3. Laboratory findings during hospitalization.
Laboratory test | Median (IQR) | Reference |
---|---|---|
Hb | 11.2 (10.2–14.6) | 11.0–14.7 gm/L |
WBC | 17.5 (13–27) | 6.0–18.0×10/L |
Platelet | 108 (87–134) | 150–550×10/L |
Sodium | 137 (134–140) | 139–146 mmol/L |
Potassium | 5.30 (3.4–5.9) | 4.1–5.3 mmol/L |
BUN | 3 (3.6–6.3) | 1.8–6.0 mmol/L |
Creatinine | 56 (61–83) | 18–35 umol/L |
Calcium | 2.20 (2.11–2.3) | 2.25–2.75 mmol/L |
Glucose | 5.8 (4.9–6.4) | 2.8–4.4 mmol/L |
Magnesium | 0.70 (0.78–0.84) | 0.70–0.95 mmol/L |
CRP | 49.8 (36–66) | ≤5.0 mg/L |
Lactic acid | 2.8 (1.99–3.90) | 0.50–2.20 mmol/L |
PT | 15.6 (12.4–18.6) | 11.0–14.5 s |
PTT | 42.7 (38.3–56.2) | 29.0–50.1 s |
INR | 1.5 (1.4–1.7) | 0.8–1.2 |
Hb – hemoglobin; WBC – white blood cell count; BUN – blood urea nitrogen; CRP – C-reactive protein; PT – prothrombin time; PTT – partial thromboplastin time; INR – international normalized ratio. |