title: Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
abstract: We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with cortical blindness, loss of speech and muscular hypotonia with slow recovery over the following 3 months. At 33 months of age pyridoxine therapy was initiated with excellent response and the boy remained seizure-free on pyridoxine monotherapy, except for two occasions with seizure recurrence 10 days after accidental pyridoxine withdrawal. alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was indicated by elevated pipecolic acid concentrations in plasma and alpha-aminoadipic semialdehyde excretion in urine. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. Despite the delay in diagnosis and prolonged status epilepticus, neuropsychological evaluations at the ages of 11 and 18 years demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ (103 and 101) than performance IQ (85 and 82).
authors.affiliation: Klinik für Neuropädiatrie und Neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche, BHZ Vogtareuth, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Kluger
authors.forename: R
authors.initials: R
authors.lastname: Blank
authors.forename: K
authors.initials: K
authors.lastname: Paul
authors.forename: E
authors.initials: E
authors.lastname: Paschke
authors.forename: E
authors.initials: E
authors.lastname: Jansen
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: H
authors.initials: H
authors.lastname: Wörle
authors.forename: B
authors.initials: B
authors.lastname: Plecko
mesh_terms: D000293:Adolescent; D000444:Aldehyde Dehydrogenase / Q000172:deficiency / Q000235:genetics; D000483:Alleles; D000927:Anticonvulsants / Q000627:therapeutic use; D019575:Blindness, Cortical / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D004569:Electroencephalography / Q000187:drug effects; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence / Q000187:drug effects; D008297:Male; D020125:Mutation, Missense; D009483:Neuropsychological Tests; D011736:Pyridoxine / Q000627:therapeutic use*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D013226:Status Epilepticus / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine