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]