Abstract
Neonatal Seizures, the most critical of neonatal neurologic dysfunction, has aetiology of varying prognoses. The diagnosis of underlying aetiology is most critical. With use of genetic studies, better imaging technologies, better cortical electrical activity mapping and biochemical advancement, every attempt in diagnosing a cause is made.
Highlights
Pryor et al [2] in early 1980s observed surge in Sydney, Australia and France. They are idiopathic in nature and are called as Benign Idiopathic Neonatal Convulsion (BINC)
Most neonatal seizures occur in early days in life with most occurring in first 28 days for term and up to corrected gestation of 44 weeks in preterm infants
Presented on day 5 with neonatal seizures – but the routine newborn screening revealed biotinidase deficiency with all the other screening by TMS (Tandem Mass Spectrophotometry) being normal – and later confirmed with serum biotinidase assay with levels being 0.36 nmoles/min/ml and no imaging was done – baby was commenced on biotin supplements and currently baby at the age of 2 years is doing well with no further seizures – on biotin supplementation
Summary
Case-2 A term female baby weighing 2.9 Kgs was born by normal vaginal delivery to non-consanguinous parents, was feeing well and discharged home at 48 hours of age. Presented on day 5 with neonatal seizures – but the routine newborn screening revealed biotinidase deficiency (with levels of biotinidase enzyme activity being 0.022 AU) with all the other screening by TMS (Tandem Mass Spectrophotometry) being normal – and later confirmed with serum biotinidase assay with levels being 0.36 nmoles/min/ml (with the normal range being 5.50 to 17.10) and no imaging was done – baby was commenced on biotin supplements and currently baby at the age of 2 years is doing well with no further seizures – on biotin supplementation.
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