TYPICAL AND ATYPICAL PRESENTATIONS OF PYRIDOXINE-DEPENDENT SEIZURES

Objective: We report on two patients with pyridoxine-dependent seizure s who illustrate the varied clinical presentation and management probl ems of this syndrome. Subjects and interventions: The first patient (a Saudi girl who showed the typical presentation) was born meconium-sta ined and had seizures in the first day of life that were finally contr olled in the third day, 2 minutes after intravenous administration of 50 mg pyridoxine. Before initiating pyridoxine, a burst-suppression pa ttern dominated her EEG. The second (a Sudanese girl) had an atypical presentation. Onset was relatively late with irritability, hyperacusis and vomiting at the age of 3 days, followed by subtle seizures that c ould easily be controlled with conventional anticonvulsants. The diagn osis was established at 3 1/2 months following recurrent attacks of af ebrile multifocal myoclonic jerks. Parenteral injection of 100 mg pyri doxine (given under EEG) resulted in cessation of electroclinical seiz ures. Both patients exhibited lethargy, hypotonia and/or apnoea immedi ately after pyridoxine administration. Main Outcome Measures and Concl usion: After 7 years follow-up the first patient had only mild delay i n language development. The second child had normal development at 14 months. The two patients represent the first cases reported from Saudi Arabia and the Middle East.