title: [Intermittent convulsions for 1.5 years and psychomotor retardation in a girl].
abstract: The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.
authors.affiliation: Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276001, China. taishanjiaoxia39@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Yang
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Li
authors.forename: Li-Yun
authors.initials: LY
authors.lastname: Xu
authors.forename: Na
authors.initials: N
authors.lastname: Xu
authors.forename: Yu-Zeng
authors.initials: YZ
authors.lastname: Han
authors.forename: Jun-Lin
authors.initials: JL
authors.lastname: Wang
authors.forename: Ji-Guo
authors.initials: JG
authors.lastname: Song
authors.forename: Ying
authors.initials: Y
authors.lastname: Hua
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Zhu
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics; D002675:Child, Preschool; D004827:Epilepsy / Q000150:complications*; D005260:Female; D006801:Humans; D009154:Mutation; D011596:Psychomotor Disorders / Q000209:etiology*; D012640:Seizures / Q000209:etiology*
chemical_list: C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase