Обследования второй линии и пробная терапия кофакторами [ферментов]/пробы с кофакторами [ферментов] при судорогах у новорожденных

https://www.dovepress.com/management-of-refractory-neonatal-...
Before starting antiepileptic (anticonvulsive) treatment, one should consider seizures that could be associated with an acute metabolic disorder, central nervous system or systemic infection, and above all, treatable inborn errors of metabolism, given that inappropriate treatment of the underlying cause will result in failure of treatment with AEDs. The so-called group of vitamin-responsive seizures constitute a subgroup peculiar to the neonatal period. In therapy-resistant neonatal seizures or status epilepticus, 100 mg of pyridoxine or, if ineffective, 500 mg, should be given intravenously during EEG monitoring, and should be continued intravenously or orally with 30 mg/kg/day divided into two or three single doses over 3 consecutive days.
Plecko advocates so-called second-line investigations to rule out possible rare etiologies of vitamin-responsive neonatal seizures in newborns with seizures that are repeated or refractory to the first-line AEDs in addition to normal first-line investigations (including blood sugar, electrolytes, blood gases, lactate, liver enzymes, creatine kinase, ammonia, procalcitonin and C-reactive protein, lumbar puncture, and cranial ultrasound).
Second-line investigations include more sophisticated neuroimaging techniques (different modes of magnetic resonance), metabolic investigations (plasma, urine, and cerebrospinal fluid to be stored at −20°C for later work-up), and cofactor trials. The first in the line is the above-mentioned pyridoxine, followed by trials of pyridoxal-5′-phosphate (PLP) 30–50 mg/kg/day in 3–4 single doses over 3 days and then folinic acid 5 mg/kg in 2–3 single doses over 3 days.