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.
Hunt AD Jr, Stokes J Jr, McCrory WW, et al. Pyridoxine dependency:report of a case of intractable convulsions in an infant controlled by pyridoxine[J]. Pediatrics, 1954, 13(2):140-145.
[2]
Been JV, Bok LA, Andriessen P, et al. Epidemiology of pyridoxine dependent seizures in the Netherlands[J]. Arch Dis Child, 2005, 90(12):1293-1296.
[3]
Yeghiazaryan NS, Zara F, Capovilla G, et al. Pyridoxine-dependent epilepsy:an under-recognised cause of intractable seizures[J]. J Paediatr Child Health, 2012, 48(3):E113-E115.
[4]
van Karnebeek CD, Tiebout SA, Niermeijer J, et al. Pyridoxine-dependent epilepsy:an expanding clinical spectrum[J]. Pediatr Neurol, 2016, 59:6-12.
[5]
Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK[J]. Arch Dis Child, 1999, 81(5):431-433.
[6]
Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures[J]. Nat Med, 2006, 12(3):307-309.
[7]
Nam SH, Kwon MJ, Lee J, et al. Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy[J]. Ann Clin Lab Sci, 2012, 42(1):65-72.
[8]
van Karnebeek CD, Jaggumantri S. Current treatment and management of pyridoxine-dependent epilepsy[J]. Curr Treat Options Neurol, 2015, 17(2):335.
[9]
Stockler S, Plecko B, Gospe SM Jr, et al. Pyridoxine dependent epilepsy and antiquitin deficiency:clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up[J]. Mol Genet Metab, 2011, 104(1-2):48-60.
[10]
Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy[J]. Dev Med Child Neurol, 2012, 54(9):849-854.
[11]
Basura GJ, Hagland SP, Wihse AM, et a1. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures:review of 63 North American cases submitted to a patient registry[J]. Eur J Pediatr, 2009, 168(6):697-704.
[12]
Oliveira R, Pereira C, Rodrigues F, et al. Pyridoxine-dependent epilepsy due to antiquitin deficiency:achieving a favourable outcome[J]. Epileptic Disord, 2013, 15(4):400-406.
[13]
Proudfoot M, Jardine P, Straukiene A, et al. Long-term follow-up of a successfully treated case of congenital pyridoxine-dependent epilepsy[J]. JIMD Rep, 2013, 10:103-106.
[14]
Riikonen R, Mankinen K, Gaily E. Long-term outcome in pyridoxine-responsive infantile epilepsy[J]. Eur J Paediatr Neurol, 2015, 19(6):647-651.
[15]
Nasr E, Mamak E, Feigenbaum A, et al. Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations:normal neurocognitive outcome[J]. J Child Neurol, 2015, 30(5):648-653.
