We report 4 pyridoxine‐dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine‐dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and management, neurodevelopment outcome, magnetic resonance imaging, and electroencephalography. All were taking pyridoxine treatment and were seizure‐free. Elevated urinary alpha‐aminoadipic semialdehyde excretion was found in all patients. Antiquitin gene analysis identified a large homozygous deletion in one patient and two heterozygous mutations in the others. Treatment with pyridoxine should be attempted for all cases of infantile and childhood refractory epilepsy, as has been the case over the last 20 years. Currently, urinary alpha‐aminoadipic semialdehyde is a reliable biomarker of pyridoxine‐dependent epilepsy, even under pyridoxine treatment. Detection of mutations in the antiquitin gene, encoding alpha‐aminoadipic semialdehyde dehydrogenase, establishes the diagnosis and allows for adequate genetic counselling.
Introduction. Attention and executive functions correspond to important areas of cognitive functioning associated with the frontal cortex. The study of attention and executive functions in children with epilepsy has focused on characterizing the group with frontal lobe epilepsy. Still, recent studies have identified deficits in these areas also in children with temporal lobe epilepsy (TLE). Aim. To investigate attention and executive functions in a group of children with TLE, also considering the influence of clinical variables (age at onset of epilepsy and evolution of seizures). Subjects and methods. Attention and executive functions were studied in a group of 24 children with TLE, aged 7-15 years and compared with 24 control children of the same age and socio-cultural level. Subjects were assigned the following tasks: Cancellation Task, Trail Making Test, Tower of London and Phonemic Verbal Fluency. Results. The group with TLE performed significantly lower on selective, sustained and divided attention and on phonemic verbal fluency. In markers concerning commissions and omissions there were no differences between groups in any of the performed tests. A significant slowing of processing speed was reported. In addition, patients with earlier age at onset of epilepsy had more difficulties in sustained attention and planning abilities. Conclusion. These results sustain the need for evaluating and monitoring the area of attention, executive functions and processing speed in children and adolescents with temporal lobe epilepsy, above all those with earlier age at onset of epilepsy.
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