title: Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
abstract: Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset and recurrent seizures that can be controlled by a high dose of pyridoxine. PDE is caused by mutations in ALDH7A1, which encodes antiquitin. Antiquitin converts α-aminoadipic semialdehyde to α-aminoadipic acid. Seizure recurrence after pyridoxine withdrawal is a criterion for diagnosis, but PDE can be diagnosed conclusively by genetic testing for mutations in the ALDH7A1 gene. In this case study, we report the long-term follow-up of a patient suspected with PDE. She experienced prolonged generalized tonic seizures and was hospitalized in an intensive care unit following pyridoxine withdrawal. Later, we identified a compound heterozygous mutation, c.1216G>A, p.Gly406Arg, and a novel splice donor site mutation, IVS9+5G>A. Confirmation of these mutations would have prevented an unsafe withdrawal test. This case suggests the importance of the genetic determination of PDE to avoid the diagnostic withdrawal of pyridoxine.
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Moe
authors.initials: M
authors.lastname: Tamaura
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Shimbo
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Mizue
authors.initials: M
authors.lastname: Iai
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Sumimasa
authors.initials: S
authors.lastname: Yamashita
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical School, Shimotsuke, Tochigi, Japan. Electronic address: hosaka@jichi.ac.jp.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics; D000927:Anticonvulsants / Q000008:administration & dosage*; D001921:Brain / Q000187:drug effects / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009154:Mutation; D011736:Pyridoxine / Q000008:administration & dosage*; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D013375:Substance Withdrawal Syndrome; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine
keywords: ALDH7A1 gene; Pyridoxine; Pyridoxine-dependent epilepsy