PYRIDOXINE-DEPENDENT EPILEPSY - DIAGNOSIS AND TREATMENT

Vitamin-B-6-dependent-epilepsy is a rare neurodegenerative disorder. U ntreated patients suffer from a progressive encephalopathy with mental retardation, intractable epilepsy and progressive neurological signs and symptoms. Early and sufficient treatment with vitamin-B-6 ensures normal development. However, no uniform recommendation exist for the d osage of vitamin-B-6, and despite early treatment many patients develo p mental retardation. In vitamin-B-6-dependent-epilepsy the neurotoxic ity of glutamate is a new pathophysiologic concept beside the imbalanc e between inhibitory (GABA) and excitatory (glutamate) neurotransmitte r. Determination of CSF glutamate off and on treatament with vitamin-B -6 is an additional diagnostic approach which allows monitoring of the therapy. Control of seizures and normalization of the EEG are not suf ficient as therapeutic target. Neurotoxic glutamate concentrations in the CSF have to be avoided during optimal treatment for normal mental development.