The Most Common Treatable Neurometabolic Epilepsies in Children

Abstract

Epilepsy is a common neurological disorder in childhood with prominent neurological manifestations, signs, and symptoms in inherited neurometabolic disorders. Accurate diagnosis of neurometabolic disorders in epileptic patients increases the possibility of a specific treatment to improve epilepsy. Therefore, early diagnosis is essential in potentially treatable epileptic disorders. Various seizure types occur in neurometabolic disorders, which are often refractory to antiepileptic drugs (without the treatment of the underlying neurometabolic disorders). Patients with underlying disorders have severe clinical presentations, such as refractory seizures. In addition, they do not respond to antiepileptic drugs in many cases. In the epileptic patients with developmental delay and/or regression, neurometabolic disorders should be considered in the presence of abnormal neurological examination and brain imaging with specific patterns. Some of these disorders are potentially treatable. Therefore, neurologists should determine the etiology of epilepsy, especially in pediatric patients, and the treatment should not be restricted to symptomatic therapy. The present study aimed to introduce some of the treatable causes of epilepsy in pediatric patients.