Register for email alerts and news feeds:
This journal | BMJ Group
rss
Archives of Disease in Childhood - Fetal and Neonatal Edition 1999;81:F125-F129; doi:10.1136/fn.81.2.F125
Copyright © 1999 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.
Arch Dis Child Fetal Neonatal Ed 1999;81:F125-F129 ( September )

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

R Nabbouta, C Souffletb, P Plouinb, O Dulaca c

a Department of Neuropaediatrics, b Department of Neurophysiology, c INSERM U 29 Université René Descartes Hospital Saint Vincent de Paul 82 avenue Denfert Rochereau 75674 Paris cx 14 France

Correspondence to: Dr O Dulac.

Accepted 28 March 1999

AIMS---To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis.
METHODS---A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began after more than 28 days of life were excluded; in all, five patients from four families were studied. Follow up ranged from 2 to 10 years.
RESULTS---A history of miscarriage and neonatal death during an epileptic seizure had occurred in the siblings of two families. One mother reported rhythmic movements of her child during the last month of pregnancy. At birth, all babies were hypotonic; four had decreased visual alertness. All babies were agitated, irritable, jittery, hyperalert, and exhibited sleeplessness and a startle reaction to touch and sound. Age of onset of seizures varied from 30 minutes to 3 days. Seizures of various types were recorded in all cases on EEG tracings, including spasms, myoclonic seizures, partial clonic, and secondary generalised seizures. Burst-suppression patterns occurred in three cases, and a combination of continuous and discontinuous patterns in two others. Bilateral high voltage delta slow wave activity was observed in four patients. Psychomotor delay was severe in three patients, moderate in one, and mild in one.
CONCLUSIONS---There is an identifiable EEG pattern that is highly suggestive of pyridoxine dependent epilepsy. Pyridoxine dependent epilepsy is probably underdiagnosed.


Keywords: pyridoxine; convulsions; genetics; epilepsy


© 1999 by Archives of Disease in Childhood

Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?

This article has been cited by other articles:

  • Been, J V, Bok, L A, Andriessen, P, Renier, W O (2005). Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch. Dis. Child. 90: 1293-1296 [Abstract] [Full Text]  
  • Hahn, J. S., Olson, D. M. (2004). Etiology of Neonatal Seizures. NeoReviews 5: e327-e335 [Full Text]  
  • Hahn, J. S., Olson, D. M. (2004). Primer on Neonatal Electroencephalograms for the Neonatologist. NeoReviews 5: e336-e349 [Full Text]  
  • Riviello, J. J. Jr (2004). Pharmacology Review: Drug Therapy for Neonatal Seizures: Part 2. NeoReviews 5: e262-e268 [Full Text]  
  • Burd, L., Stenehjem, A., Franceschini, L. A., Kerbeshian, J. (2000). A 15-Year Follow-Up of a Boy With Pyridoxine (Vitamin B6)-Dependent Seizures With Autism, Breath Holding, and Severe Mental Retardation. J Child Neurol 15: 763-765 [Abstract]  
  • BAXTER, P. (2000). Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch. Dis. Child. Fetal Neonatal Ed. 83: 160F-160 [Full Text]  
  • Farrant, R. D., Walker, V., Mills, G. A., Mellor, J. M., Langley, G. J. (2001). Pyridoxal Phosphate De-activation by Pyrroline-5-carboxylic Acid. INCREASED RISK OF VITAMIN B6 DEFICIENCY AND SEIZURES IN HYPERPROLINEMIA TYPE II. J. Biol. Chem. 276: 15107-15116 [Abstract] [Full Text]  

This Article

Services
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Latest from ADC

 

ADC is co-owned by the RCPCH and is the official journal of the European Academy of Paediatrics

BMJ Careers - Latest Paediatrics and Paediatric Surgery Jobs

Paediatrics and Paediatric Surgery Jobs