A Rare Cause of Developmental Epileptic Encephalopathy: D-Bifunctional Protein Deficiency with a Novel Pathogenic Variant
Makaleler > Tam Makale · 2023
Yazarlar: Cemile Büşra ÖLÇÜLÜ, ERDEM ŞİMŞEK, Sanem KESKİN YILMAZ, Ayça AYKUT, Asude DURMAZ, Hasan Tekgul
Journal of Pediatric Neurosciences, Uluslararası, Scopus, 2023, cilt 18, ss 233-236
Özet
A bstract Peroxisomal disorders are rare causes of severe neonatal encephalopathies. Here we report a two-month old infant with refractory neonatal seizures evaluated with first-step metabolic screening in the neonatal intensive care unit. The screening did not indicate the inborn error of metabolism. In a series of electroencephalography (EEG) studies, multifocal epileptic discharges and electroclinic seizures were observed, suggesting epileptic encephalopathy. The analysis of plasma very-long-chain fatty acids indicated a peroxisomal disorder. Then a next-generation DNA sequencing panel of epileptic encephalopathy provided a D-Bifunctional Protein Deficiency (D-BP) with a novel mutant gene. The epilepsy panels with next-generation DNA sequencing, after the primarily metabolic screening for the differential diagnosis of early infantile epileptic encephalopathy, provide guidance for a definitive diagnosis. Next-generation genetic studies are essential in identifying subtypes of peroxisomal disorders because they have similar very-long-chain fatty acid levels and dysmorphic findings.