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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 A

DOI: 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 parameterResultReference
Hb13.6 g/L10–18 g/L
CRP0.5 g/L
Procalcitonin0.07 ng/ml0.1 ng/ml
Sodium138 mmol/L133–146 mmol/L
Potassium5.1 mmol/L3.7–5.9 mmol/L
Calcium1.65 mmol/L2.25–2.75 mmol/L
Magnesium0.7–0.95 mmol/L
Urea3.9 mmol/L1.8–6 mmol/L
Creatinine32 µmol/L18–35 µmol/L
Glucose7.1 mmol/L2.8–4.4 mmol/L
ALT31 U/L5–55 U/L
AST51 U/L5–34 U/L
Albumin33 g/L38–54 g/L
PT14.09.3–12.4 s
aPTT26.825.6–59.8 s
BT4.54–9 minutes
Lactic acid2.3 mmol/L0.5–2.2 mmol/L
Ammonia44 µmol/L18–72 µmol/L
PTH6.4 pmol/L1.6–7.2 pmol/L
Blood cultureNegative×
Urine cultureNegative×
CSF cultureNegative×
Chest X-rayNormal×
Head ultrasoundNo bleeds, no other abnormality×
Brain magnetic resonance imagingNormal×
Newborn screening, metabolic diseaseNormal×
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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923