Epilepsias generalizadas idiopáticas diagnosticadas incorretamente como epilepsias parciais

Abstract

RESUMO -A epilepsia generalizada idiopática (EGI) frequentemente não é diagnosticada corretamente em adultos, com sérias consequências para os pacientes. O objetivo deste estudo foi avaliar os fatores mais frequentemente associados a dificuldades no diagnóstico diferencial entre epilepsias parciais e generalizadas em adultos. Avaliamos 41 pacientes com diagnostico de crises parciais complexas com elementos de anamnese e EEG indicando um possível diagnóstico diferencial. Foi possível a mudança do diagnóstico de epilepsia parcial para EGI em 25 pacientes: 22 (88%) com EMJ; um com ausência juvenil, um com síndrome de ausências com mioclonias periorais e um com ausência com mioclonias palpebrais. Mioclonias, uma das características da EMJ e outras formas de EGI, geralmente não eram espontaneamente relatadas pelos pacientes. Abalos mioclônicos unilaterais eram confundidos com crises parciais motoras. Ausências breves e pouco frequentes e anormalidades focais no EEG contribuíram para o não reconhecimento de EGI. Todos os 25 pacientes apresentavam crises sem controle adequado antes da revisão diagnóstica. Após o diagnóstico correto e mudança para monoterapia com acido valpróico ou valproato de sódio, 19 (76%) ficaram livre de crises e seis (24%) dos 25 pacientes apresentaram melhora significativa. A associação de lamotrigina em três destes pacientes propiciou redução significativa da frequência de crises. Em conclusão, anamnese detalhada e questionamento direcionado para determinar a presença de mioclonias e crises tipo ausência e a sua interpretação no contexto clínico são fundamentais para o diagnóstico correto das EGI em adultos. PALAVRAS-CHAVE: epilepsia, diagnostico, tratamento, EEG. Idiopathic generalized epilepsies misdiagnosed as partial epilepsiesABSTRACT -Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25 patients: 22 (88%) with JME, one with juvenile absence, one with perioral myoclonia with absences, one with eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients or misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not recognizing JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clini...

Clinical and electroencephalographic characteristics of a cohort of patients with epilepsy and absence seizures

“…In 8 patients, the presence of appendicular myoclonus was confused with temporal lobe automatisms. The diversity in the types of seizures found in patients with absence seizures in the present study is in agreement with reports in the literature 13,23,24 . This heterogeneity in the absence seizures found in patients with generalized epilepsy has been confirmed by other authors 6,10,12,13,23,24 .…”

“…The diversity in the types of seizures found in patients with absence seizures in the present study is in agreement with reports in the literature 13,23,24 . This heterogeneity in the absence seizures found in patients with generalized epilepsy has been confirmed by other authors 6,10,12,13,23,24 . The finding of absence epilepsy in our patients is in agreement with reports in the literature that patients with absence seizures, albeit apparently asymptomatic, may progress to absence epilepsy or generalized tonicclonic seizures 5,[25][26][27] .…”

“…In 14 patients (70%) in this series, an increase was found in the frequency of epileptic seizures that was attributed to the use of antiepileptic drugs that are contraindicated for patients with absence seizures, thereby confirming the importance of the new ILAE classification 19 , which now includes selective response to antiepileptic drugs as part of the classification criteria 2,[20][21][22] . Incorrect diagnosis based on the presence of apparently focal characteristics 23,24 , as well as interictal EEG scans with focal abnormalities 7 , were also found in our patients and were confounding factors in the differential diagnosis with focal epilepsy. Indeed, differential diagnosis was only possible with the aid of video-EEG.…”