DIFFICULTIES OF EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY-9 DIAGNOSTIC

Abstract

Introduction: Early infantile epileptic encephalopathy (EIEE) is a group of monogenic epilepsies which are caused by mutations in more than 70 genes. Material and methods: The data of a long-term dynamic EEG observation of a girl with EIEE9 (OMIM 300088) caused by a mutation in the PCDH19 gene (OMIM 300460) are presented. Results: Correct etiological diagnosis of the hereditary disease was established only at the age of 14 years. Epilepsy debuted at the age of 8 months as a series of one minute long generalized tonic convulsions with myoclonia in the left arm. After further examination the symptoms were mistakenly regarded as viral encephalitis. Subsequently, clusters of convulsive seizures provoked by febrile states periodically were occurring several times per year irrespective of the type and amount of anticonvulsants taken. Despite the fact, that no significant structural changes in the brain we found during neuroimaging, pharmacoresistant focal epilepsy gradually developed. At the age of 14 years, as part of a pre-surgical examination for two days, the complete abolition of anticonvulsants and the implantation of subdural electrodes were performed. Focal motor seizures with a transition to bilateral tonic-clonic seizures were recorded, during which the primary generation of epileptic activity was localized in the left temporal lobe. А thorough examination with a clarification of the monogenic origin of the disease made it possible to avoid undue surgery on the brain. Discussion: The presented observation is a clear example of why a timely genetic examination is important for establishing correct diagnosis, adequate selection of anticonvulsants and a making a right decision on the possibility of surgical treatment.