Abstract
A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of non-consanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fluid analysis were unrevealing. An MRI of the brain was normal. Prolonged video EEG demonstrated voltage suppression of the background activity. Irritability and recurrent irregular lightening-like jerks became noted several hours after birth that were associated with electrographic bursts of high-voltage epileptiform discharges on the EEG suggesting myoclonic seizures (Fig. 2.1). Myoclonic seizures remained refractory to conventional antiepileptic drugs (AEDs). Pyridoxine 100 mg IV resulted in almost immediate cessation of his myoclonic seizures. In addition, gradual return of continuous EEG background activity was noted. Extensive investigations to find metabolism inborn error or genetic etiologies later revealed an elevated plasma pipecolic acid level and an elevated urinary α-aminoadipic semialdehyde level that supported a diagnosis of pyridoxine-dependent epilepsy.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Bibliography
Jiao FY, Takuma Y, Wu S, et al. Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children. Pediatr Neurol. 1997;17:54–7.
Mikati MA, Trevathan E, Krishnamoorthy KS, et al. Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. Electroencephalogr Clin Neurophysiol. 1991;78:215–21.
Naasan G, Yabroudi M, Rahi A, Mikati MA. Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations. Epileptic Disord. 2009;11(4):293–300.
Stockler S, Plecko B, Gospe Jr SM, Coulter-Mackie M, Connolly M, van Karnebeek C, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011;104(1–2):48–60.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer Science+Business Media New York
About this chapter
Cite this chapter
Wong-Kisiel, L. (2014). Pyridoxine-Dependent Epilepsy. In: Tatum, W., Sirven, J., Cascino, G. (eds) Epilepsy Case Studies. Springer, Cham. https://doi.org/10.1007/978-3-319-01366-4_2
Download citation
DOI: https://doi.org/10.1007/978-3-319-01366-4_2
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-01365-7
Online ISBN: 978-3-319-01366-4
eBook Packages: MedicineMedicine (R0)