DIAGNOSTIC DIFFICULTIES IN PATIENTS WITH JUVENILE MYOCLONIC EPILEPSY

Abstract

Objective:  In this study, we aim to share the data of patients who were followed-up and treated with a diagnosis of juvenile myoclonic epilepsy (JME), and to draw attention to the difficulties in diagnosis and the problems that may occur in treatment.

Method: In this study, seizure types, demographic and EEG characteristics of 75 patients with JME were retrospectively analyzed in our tertiary care center.

Results: Of the total 75 cases, 48 patients (64%) were female and 27 patients (36%) were male. The overall female/male ratio was 1.7/1. The age of onset of seizures ranged from 6 to 24 years old. According to seizure types, all patients had myoclonic seizures, 65 patients (86%) had generalized tonic clonic seizures and 17 patients (22.6%) had absence seizures. Of the cases, 13 patients (17.3%) had febrile convulsions, 4 patients (5.3%) had a history of febrile convulsions in their families  and 10 patients (13.3%) had a  family history of epilepsy. For 63 (84%) patients, seizures were under control with valproic acid alone. When the patients EEGs were examined, 55 patients (73.3%) had generalized epileptiform activity, 11 patients (14.7%) had focal abnormaly and 9 patients (12%) had no abnormality. It was determined that the diagnosis of JME was not established at the onset of the disease and the seizures were not under control for 40% of the patients who were admitted to our outpatient clinic from different centers.

Conclusion: Physicians should be very careful in the diagnosis of JME and the presence of myoclonia and absence seizures should be questioned in all patients presenting with generalized tonic-clonic seizures between 8-20 years of age in polyclinic practice.