JUVENILE MYOCLONIC EPILEPSY - AN UNDERDIAGNOSED SYNDROME

Since the first description of juvenile myoclonic epilepsy (JME) in the English literature in 1984, the delay in correct diagnosis of JME remains unchanged. Ninety patients with JME were studied. Median delay in diagnosis was 9 years (range 0-52 years). Reasons for delay in diagnosis were analyzed. Failure to recognize the myoclonic seizures (MS) was the most common element contributing to the delay. In some eases, MS were not reported by the patients; in other cases, MS were confused with nervousness or clumsiness and not interpreted as epileptic in nature by the referring physicians. Clinical and EEG asymmetries were the second most important cause for misdiagnosis. In 53.7% of these cases, asymmetries were interpreted as partial features. The third cause of misdiagnosis was the lack of recognition of the MS associated with normal interictal EEGs. These cases were interpreted as nonepileptic seizures. It is important to be aware of this frequent epileptic syndrome, in which nearly 90% of cases can be controlled with adequate treatment (valproate, VPA).