title: Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy.
abstract: Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures. Genetic testing can confirm mutations in the ALDH7A1 gene, which encodes antiquitin. To avoid delays in initiating treatment while awaiting confirmatory genetic testing, it is recommended that all neonates with unexplained seizures should receive trial of intravenous (IV) pyridoxine to assess for responsiveness. However, oral pyridoxine is not commonly continued in the absence of the typical EEG changes. Two cases are presented that highlight the potential inadequacy of this single-step approach. One neonate ultimately diagnosed with pyridoxine-dependent seizures had no EEG changes after administration of IV pyridoxine. In contrast, another neonate who did not have this diagnosis had profound EEG changes after pyridoxine administration. We present 2 cases that highlight the difficulties in using initial EEG response to IV pyridoxine in establishing a diagnosis of pyridoxine-dependent seizures in the neonate. Given the availability of biochemical markers and gene testing, we suggest that oral pyridoxine treatment should be continued until biochemical and/or genetic testing has confirmed the presence or absence of pyridoxine-dependent epilepsy.
authors.affiliation: Division of Neurology, and Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Melissa
authors.initials: M
authors.lastname: Cirillo
authors.affiliation: Division of Neurology, and Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Charu
authors.initials: C
authors.lastname: Venkatesan
authors.affiliation: Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; and j-millichap@northwestern.edu.
authors.forename: John J
authors.initials: JJ
authors.lastname: Millichap
authors.affiliation: Division of Neurology, and Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Cynthia V
authors.initials: CV
authors.lastname: Stack
authors.affiliation: Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; and.
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Nordli
mesh_terms: D000284:Administration, Oral; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007275:Injections, Intravenous; D011736:Pyridoxine / Q000008:administration & dosage*; D014803:Vitamin B Complex / Q000008:administration & dosage
chemical_list: D014803:Vitamin B Complex; D011736:Pyridoxine