About the Registry
Since the publication of the initial case report in 1954 (1), seizures due to pyridoxine-dependency have been recognized as an uncommon cause of intractable seizures in neonates and young infants. Since the publication of this initial report, close to 100 additional cases have been described, with more recent papers reporting a variety of atypical presentations of this autosomal recessive form of familial epilepsy (2-5). While neonatal seizures due to pyridoxine-dependency are felt to be quite rare (6), the reports of the late-onset and other atypical presentations (2, 3, 5) along with some recent demographic data from the UK (7, 8) suggest that this is a more common clinical entity than once thought (4). Elevations of pipecolic acid in blood and spinal fluid (9) and mutations in the antiquitin gene have recently been described in a small number of patients with classic neonatal onset PDS (10). However, genetic heterogeneity for PDS has been suggested by additional genetic analysis (11).
In order to learn more about the variety of clinical presentations of pyridoxine-dependent seizures (PDS), the response of the disorder to various dosage regimens of pyridoxine, the imaging (12) and EEG (13, 14) characteristics of the disorder, and the long term developmental consequences of PDS (2, 7), we have developed a PDS Registry. Patients with PDS will be identified to the registry by physicians or parents. After informed consent, clinical and developmental data will be obtained and saved for future analysis and reporting. Other investigators interested in PDS may request to contact registered patients. These investigators will need to have a protocol approved by their institution’s "IRB". However, to protect confidentiality, outside investigators will not be able to directly contact registered patients. Parents who are interested in participating in other studies will be given the names of these researchers and the parents then may contact the investigators.
The PDS Registry was first developed by the Child Neurology Service at University of California, Davis Medical Center and is now administered by the Division of Pediatric Neurology at Seattle Children's Hospital and the University of Washington.
References:
1. Hunt AD, Stokes J, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954;13:140-5.
2. Baumeister FAM, Gsell W, Shin YS, Egger J. Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. Pediatrics 1994;94:318-21.
3. Coker S. Postneonatal vitamin B6-dependent epilepsy. Pediatrics 1992;90:221-3.
4. Gospe SM, Jr. Current perspectives on pyridoxine-dependent seizures. Journal of Pediatrics 1998;132:919-23.
5. Goutières F, Aicardi J. Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Annals of Neurology 1985;17:117-20.
6. Haenggeli C-A, Girardin E, Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. European Journal of Pediatrics 1991;150:452-5.
7. Baxter P, Griffiths P, Kelly T, Gardner-Medwin D. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Developmental Medicine Child Neurology 1996;38:998-1006.
8. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Archives of Disease in Childhood 1999;81:431-3.
9. Plecko B, Hikel, C, Korenke, GC, Schmitt, B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stockler-Ipsiroglu S. Pipecollic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 2005;36:200-5.
10. Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nature Medicine 2006;12:307-9.
11. Bennett CL, Huynh HM, Chance PF, GlassIA, Gospe SM, Jr. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics 2005;6:143-9.
12. Gospe SM, Jr., Hecht ST. Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology 1998;51:74-8.
13. Mikati MA, Trevathan E, Krishnamoorthy KS, Lombroso CT. Pyridoxine-dependent epilepsy: EEG investigation and long-term follow-up. Electroencephalography Clinical Neurophysiology 1991;78:215-21.
14. Nabbout R; Soufflet C; Plouin P; Dulac O. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Archives of Disease in Childhood. Fetal and Neonatal Edition 1999;81:F125-9.
