Early Pyridoxine Administration to Avoid Late Diagnosis of Pyridoxine-Dependent Epilepsy; Comment on the ILAE Guidelines Proposal on the Treatment of Seizures in the Neonate

Journal of Pediatric Epilepsy 2024; 13(02): 047
DOI: 10.1055/s-0043-1778010

Letter to the Editor

¹Neonatology and Neonatal Intensive Care Unit, University Hospital Policlinico “G. Rodolico – San Marco”, P.O. San Marco, Catania, Italy

,

Raffaele Falsaperla

¹Neonatology and Neonatal Intensive Care Unit, University Hospital Policlinico “G. Rodolico – San Marco”, P.O. San Marco, Catania, Italy

²Pediatric and Pediatric Emergency Department, University Hospital Policlinico “G. Rodolico – San Marco”, P.O. San Marco, Catania, Italy

References
1 Kluger G, Blank R, Paul K. et al. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics 2008; 39 (05) 276-279
2 Lin J, Lin K, Masruha MR, Vilanova LC. Pyridoxine-dependent epilepsy initially responsive to phenobarbital. Arq Neuropsiquiatr 2007; 65 (4A): 1026-1029
3 Mastrangelo M, Gasparri V, Bernardi K, Foglietta S, Ramantani G, Pisani F. Epilepsy phenotypes of vitamin B6-dependent diseases: an updated systematic review. Children (Basel) 2023; 10 (03) 553
4 Falsaperla R, Vari MS, Toldo I. et al; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica). Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort. Metab Brain Dis 2018; 33 (01) 261-269
5 Coughlin II CR, Swanson MA, Spector E. et al. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis 2019; 42 (02) 353-361
6 Bok LA, Maurits NM, Willemsen MA. et al. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. Epilepsia 2010; 51 (12) 2406-2411