Case Report
15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation
Table 1
Laboratory results from the NICU.
| | Parameter | Results | Reference value |
| Blood analysis | Hemoglobin (g/dl) | 14.7 | [13–15] | Blood type | A+ | N/A | Direct coombs | Negative | N/A |
| Blood chemistry | Glucose (mg/dl) | 69 | [80–100] | Ammonia (μg/dl) | 140 | [27–102] | C-reactive protein (mg/l) | 5.30 | [0.5–5.0] |
| Electrolytes | K (mmol/l) | 4.74 | [3.70–5.30] | Na (mmol/l) | 136.0 | [135.0–148.0] | Cl (mmol/l) | 112.2 | [98.0–115.0] | Calcium (mmol/l) | 1.06 | [1.12–1.30] | Magnesium (mg/dl) | 2.1 | [1.6–2.6] |
| Gasometry | Ph (alg H+) | 7.45 | [7.350–7.450] | PCO2 (mmHg) | 18.3 | [30.0–40.0] | PO2(mmHg) | 52.5 | [58.5–100.0] | HCO3 (mmol/l) | 12.5 | [22.0–29.0] | Base excess (mmol/l) | −10.8 | [−2.0–2.0] | SO2 (%) | 92.2 | [95.0–99.0] | AnGap | 19.9 | [8.0–40.0] |
| Muscle damage reactants | CPK (U/L) | 1400 | [39–308] | CPK (U/L) control week | 173 | [39–308] | Lactate | 3.5 | [1.2–6.9] |
| Uroanalysis | Blood | Negative | | Rbc hpfield | 2 | [0–4] | Wbc hpfield | 3.4 | [0–4] | Microbiologic | Negative | |
| Coagulation | TP (s) | 16.4 | [11–15] | TTP (s) | 50.4 | [25–35] | INR | 1.47 | [1.0–1.4] |
| TORCH | IgM (U/I) | <1 | N/A | Toxicology-panel 7-to newborn | Cocaine, amphetamine/Meth, ecstasy, marijuana, PCP, codeine, heroin, morphine, benzodiazepines, barbiturates | Negative | N/A | CSF analysis | Proteins (mg/dl) | 65.2 | [20–68] | Glucose (mg/dl) | 49.0 | [Serum ratio >0.6] | Ziehl, gram, culture | Negative | N/A |
| Hormonal | FT4 (ng/dl) | 1.43 | [0.66–2.71] | TSH (μlU/ml) | 1.04 | [0.43–16.1] |
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