26 March 2024: Articles
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Challenging differential diagnosis, Management of emergency care, Rare disease, Congenital defects / diseases
Mohammed Shahab Uddin A* , AlZahra Y. Alradhi B , Fahad Mushbb N. Alqathani B , Othman Saleh Alessa B , Ahmed Nawfal M. Alshammari B , Ratna Tripathy C , Mohammed Ahmed Alomari ADOI: 10.12659/AJCR.942498
Am J Case Rep 2024; 25:e942498
Table 1. Comprehensive laboratory parameters obtained upon the patient’s admission. Values are presented alongside their respective reference intervals to highlight any clinically pertinent anomalies. Notably, deviations from the norm may signal underlying pathophysiological processes.
| Laboratory test parameter | Result | Reference |
|---|---|---|
| Hb | 13.6 g/L | 10–18 g/L |
| WBC | 15 | 5–19.5×10/L |
| Platelets | 451 | 150–550×10/L |
| CRP | 0.5 g/L | |
| Procalcitonin | 0.07 ng/ml | 0.1 ng/ml |
| Sodium | 138 mmol/L | 133–146 mmol/L |
| Potassium | 5.1 mmol/L | 3.7–5.9 mmol/L |
| Calcium | 1.65 mmol/L | 2.25–2.75 mmol/L |
| Magnesium | 0.7–0.95 mmol/L | |
| Urea | 3.9 mmol/L | 1.8–6 mmol/L |
| Creatinine | 32 µmol/L | 18–35 µmol/L |
| Glucose | 7.1 mmol/L | 2.8–4.4 mmol/L |
| ALT | 31 U/L | 5–55 U/L |
| AST | 51 U/L | 5–34 U/L |
| Albumin | 33 g/L | 38–54 g/L |
| PT | 14.0 | 9.3–12.4 s |
| aPTT | 26.8 | 25.6–59.8 s |
| INR | 1.3 | 0.8–1.1 |
| BT | 4.5 | 4–9 minutes |
| Lactic acid | 2.3 mmol/L | 0.5–2.2 mmol/L |
| Ammonia | 44 µmol/L | 18–72 µmol/L |
| PTH | 6.4 pmol/L | 1.6–7.2 pmol/L |
| Blood culture | Negative | × |
| Urine culture | Negative | × |
| CSF culture | Negative | × |
| Chest X-ray | Normal | × |
| Head ultrasound | No bleeds, no other abnormality | × |
| Brain magnetic resonance imaging | Normal | × |
| Newborn screening, metabolic disease | Normal | × |
| Hb – hemoglobin; WBC – white blood cells; CRP – C-reactive protein; ALT – alanine aminotransferase; AST – aspartate aminotransferase; PT – prothrombin time; aPTT – activated partial thromboplastin time; INR – international normalized ratio; BT – bleeding time; PTH – parathyroid hormone; CSF – cerebrospinal fluid. | ||