EARLY-ONSET IDIOPATHIC INTRACTABLE SEIZURES AND AFFECTIVITY OF PYRIDOXINE TREATMENT IN CHILDREN

Abstract

INTRODUCTION: Pyridoxine dependent epilepsies (PDEs) are autosomal recessive disorders which are characterized by seizures at neonatal onset not responding to conventional antiepileptic drugs (CADs), and can only cease after parenteral pyridoxine administration. Diagnostic criteria for this condition are: cessation of clinical and electroencephalographic seizures following intravenous administration of 100 mg of pyridoxine, and no seizure recurrence while on long-term treatment. PDEs epidemiology with a considerable heterogeneity has been reported with birth incidences are 1:20,000 in Germany, 1:396,000 in Netherlands and 1:783,000 in the UK and Ireland. Mutations in the gene encoding for the alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) have been identified in the related enzyme deficiency. MATERIAL AND METHODS:  All children attending the paediatric with intractable seizures, were enrolled in the study. Inclusion criteria was Intractable seizures, seizures had persisted for more than 6 months under regular administration of three or more appropriate antiepileptic drugs (AEDs), except pyridoxine; seizure frequency was more than once per day; and onset of epilepsy in the first 18 months of life. An electroencephalogram (EEG) was recorded for all patients. Those with abnormal EEG were given a pyridoxine trial, of an intravenous infusion of 100 mg of pyridoxine (vitamin B6 25 mg; vitamin B1 50 mg; vitamin B12 500 mg; D-panthenol 25 mg)which was diluted in saline and given over 10-min with a simultaneous EEG monitoring . This procedure was carried out in the EEG laboratory with all appropriate precautions. Follow up of the patients was done every 15 days. Those patients on pyridoxine therapy who remained seizure-free with previous AEDs were gradually tapered one by one over the next 3-months. RESULTS: A total of 27 patients with intractable epilepsy were included in the study. Of which 16 (59.3%) male and 11(40.7%) female were having intractable epilepsy. Of the total 5 patients with focal seizures 3(60%) were male and 2(40%) were female. out of 22 patients with generalized seizures 13 (59.1%) were male and 9(40.9%) were females. Mean age of onset of seizures in male was 5.3 months and in females was 5.1 months. EEG findings in all patients was abnormal. After pyridoxine treatment 2 patients with generalised seizures and receiving 3 antiepilectic drugs respond well to the treatment within 3 weeks of treatment.  In another 4 patients seizure frequency decreased to 25% after treatment. CONCLUSION: Most of the patients responded well to the pyridoxine treatment, but the IV injections and risk of infection may be the problem and some patient may not continue the treatment.

KEYWORDS: alpha-aminoadipic-semialdehyde dehydrogenase, electroencephalogram, D-panthenol, seizures