Evaluation of a neonate with seizures

Evaluation	First-tier tests	Second-tier tests
Clinical	Complete history, general physical and neurologic exams	Dilated ophthalmologic exam Pyridoxine/PLP therapeutic trials*
Blood	Sodium, glucose, calcium, magnesium, liver function tests, ammonia, lactate, pyruvate, amino acids Arterial blood gas, pH, lactate, pyruvate Newborn screen^¶ TORCH titers (toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex)	Carnitine, acylcarnitine, carbohydrate deficient transferrin Biotinidase enzyme activity^Δ Genetic testing for neonatal-onset epilepsies^◊
Urine	Urine culture Toxicology screen	Reducing substances, sulfites, organic acids, guanidinoacetate, creatine, alpha-AASA
Cerebrospinal fluid	Cell counts and differential Glucose and total protein HSV1/2 PCR Gram stain and culture	Lactate Amino acids Neurotransmitter profile
Neuroimaging	MRI with MR angiography and venography Cranial ultrasound^§	MR spectroscopy

PLP: pyridoxal phosphate; TORCH: toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus; alpha-AASA: alpha-aminoadipic semialdehyde; HSV: herpes simplex virus; PCR: polymerase chain reaction; MRI: magnetic resonance imaging.
* Consider in cases of refractory neonatal seizures unresponsive to conventional antiseizure medications.
¶ Composition of the newborn screening panel varies by state and country.
Δ If biotinidase deficiency is not included in newborn screen.
◊ Consider genetic testing in cases of refractory neonatal seizures unresponsive to conventional antiseizure medications or with no cause identified on initial evaluation.
§ If available and MRI cannot be obtained in a timely manner.

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خرید پکیج

Evaluation of a neonate with seizures