Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment.

The study testifies an assumption on epilepsy as an inborn error of pyridoxine metabolism and suggests non-invasive quantitative biomarkers for clarified evaluation of clinical status and monitoring an individual treatment by antiepileptic drugs. Urinary parameters of pyridoxal-phosphate (PLP)-dependent tryptophan degradation and the level of 4-pyridoxic acid, the end product of pyridoxine metabolism, were measured by HPLC method with simultaneous ultraviolet and fluorimetric detection in children with different forms of epilepsy and matched healthy controls. The concentrations of compounds formed or metabolized in the course of tryptophan degradation (kynurenines, indoxyl-sulfate) along with correlations between them turned out to be quantitative biomarkers useful for both clarifying patient's clinical state and monitoring antiepileptic treatment. In particular, the value of the ratio of 4-pyridoxic acid to kynurenine appears to be an index of an experienced seizure attack, while the ratio of 3-hydroxyanthranilic acid to 3-hydroxykynurenine reflects activity of kynureninase, the enzyme of critical sensitivity to PLP supply. Growing progressively worse, epilepsy is accompanied by aggravation of PLP-dependent disturbances of tryptophan metabolism and expanding inhibition of kynureninase. The affected pyridoxine metabolism is discussed as an inborn genetic trait in epilepsy in general, rather than a specific sign of pyridoxine-dependent epilepsy solely.

Behavioral disorders in children with idiopathic intracranial hypertension.

The purpose of this research was to evaluate the association between idiopathic intracranial hypertension and behavior, attention, and learning abilities in children. Parents of school-age children with idiopathic intracranial hypertension were asked to fill out a questionnaire and to rank the child's behavioral patterns before and after the diagnosis and treatment of the disease. The questionnaire was based on Conners' test. Ten children were included in the study. Mean age at diagnosis was 11.5 years. Mean follow-up time was 25 months. Six patients (60%) met the definition of attention- and concentration-deficit disorders before diagnosis of idiopathic intracranial hypertension; 1 patient was treated with methylphenidate (Ritalin) before referral to eye examination. After the diagnosis was made and treatment was established, 5 patients (83%) reported an improvement in their attention and behavior. Of these 6 patients, 2 (33%) reported marked improvement. We conclude that attention- and concentration-deficit disorder might be an early sign for pediatric idiopathic intracranial hypertension. Diagnosis and treatment of idiopathic intracranial hypertension in these children may improve the child's behavior, attention, and achievements in school, without the need to resort to other modes of therapy.