Estudo clínico-epidemiológico de pacientes com epilepsia mioclônica juvenil em Santa Catarina

Abstract

RESUMO -Realizamos estudo retrospectivo em 26 pacientes com epilepsia mioclônica juvenil (EMJ) no intuito de traçar seu perfil clínico e estabelecer a prevalência da síndrome entre pacientes com epilepsias diversas. Critérios de inclusão no estudo foram: a) abalos mioclônicos, preferentemente matinais; b) início dos sintomas entre 8 e 26 anos; c) laudo eletrencefalográfico típico; e d) boa resposta ao valproato de sódio (VPA). A prevalência de EMJ, entre 939 pacientes com epilepsias diversas, foi de 2,8%. Observou-se nítido predomínio do sexo feminino (73,1%). A idade de início dos sintomas variou de 7 a 18, média de 13 anos. Crises tônico-clônicas e de ausência eram apresentadas concomitantemente por, respectivamente, 92,3 e 19,2% da amostra. Além disso 92.3% deles apresentavam atividade epileptiforme típica em seus eletrencefalogramas e 76,9% evidenciaram boa resposta ao VPA com dose diária variando de 500mg a 1500mg.PALAVRAS-CHAVE: epilepsia, mioclonias, valproato de sódio. Clinical-epidemiological study of patients with juvenile myoclonic epilepsy in Santa Catarina State -BrazilABSTRACT -We aimed to characterize the clinical profile and to establish the prevalence of juvenile myoclonic epilepsy (JME) among 939 consecutive patients referred to our epilepsy clinic. Inclusion criteria in the study were: a) myoclonic jerks, preferably on awakening; b) beginning of the symptoms between 8 and 26 year-ofage; c) typical pattern of electroencephalographic discharges; and d) good response to sodium valproate (VPA). In a retrospective design, 26 cases of JME were identified (prevalence 2.8%). Most of these patients were female (73.1%). Mean age at onset of symptoms was 13 (range 7-18). Tonic-clonic seizures were reported in 92.3% and absence seizures in 19.2%. Besides, 92.3% of the patients had typical EEG epileptiform activity and 76.9% had good response to VPA with daily dose ranging from 500mg to 1500mg. KEY WORDS: epilepsy, myoclonic jerks, sodium valproate.Epilepsia mioclônica juvenil (EMJ) é síndrome relativamente frequente, representando cerca de 4 a 12% de todos os pacientes com epilepsia 1 . Ambos os sexos são afetados mas não podemos afirmar se o são na mesma proporção ou se há predomínio de um sobre o outro 2 . A idade de início das manifestações varia entre 9 e 27 com maior acometimento na faixa de 13-20 anos 3 . A tríade característica consiste de crises de ausência típicas, abalos mioclônicos ao despertar e crises tônico-clônicas, frequentemente precedidas por abalos. As crises de ausência na EMJ costumam iniciar entre 5 e 16 anos mas têm participação restrita, pois estão presentes entre 10 a 39% dos pacientes.1,3 Abalos mioclônicos estão presentes em 100% dos casos 3 e costumam ocorrer entre 1 a 6 anos após manifestações das crises de ausência. Entretanto, naqueles que não iniciam com ausências, tais crises usualmente começam por volta dos 10 anos de idade. Por sua vez, as crises tônico-clônicas estão presentes em 90 a 95% 3 dos pacientes e costumam surgir alguns meses após as primeiras manifestações mio...

Juvenile myoclonic epilepsy

“…In Brazil, a retrospective study was performed and showed results that were similar to those in the literature 9 . JME accounted for 2.8% of all epilepsy cases.…”

“…All patients manifested myoclonic jerks, while 92.3% had GTCS and 19.2% had AS. A positive family history of epilepsy was present in 53.8% 9 . ETIOLOGY JME etiology stems from genetics 2 .…”

Juvenile myoclonic epilepsy: non‐classic electroencephalographical presentation in adult patients*

“…Juvenile myoclonic epilepsy was diagnosed in 2.4% of the patients followed in this Epilepsy Outpatient unit in the period of January 2001 to December 2002. The disparity in prevalence of JME in patients with epilepsy (2.8–12%) among several centers probably is because of the characteristics of the population studied; tertiary hospitals, that are reference for difficult cases, have a lower number of cases than primary and secondary care centers [2,6,10,17–20]. In Brazil there are no epidemiologic data about the exact prevalence of each epileptic syndrome.…”

“…Juvenile myoclonic epilepsy was diagnosed in 2.4% of the patients followed in this Epilepsy Outpatient unit in the period of January 2001 to December 2002. The disparity in prevalence of JME in patients with epilepsy (2.8-12%) among several centers probably is because of the characteristics of the population studied; tertiary hospitals, that are reference for difficult cases, have a lower number of cases than primary and secondary care centers [2,6,10,[17][18][19][20]. In Brazil there are no epidemio- In 22.9% of our patients the EEG was always normal, which was reported in other studies, ranging from 6.3% [2] to 38.9% [13] of the cases, fact that stress out that normal EEG does not exclude the diagnosis of JME, mainly when it is performed in a routine evaluation, lasting 30 min.…”

Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy

“…These manifestations may be associated with tonic-clonic and also absence seizures 2 . The treatment of JME is based on the administration of antiepileptic drugs (AEDs) and controlling precipitating factors (sleep deprivation, emotional stress and alcohol use) 3,4,5,6,7 . Although, patients can have seizure controlled with medication, the recurrence rate is high, thus there is a need to continue their medications without interruption 3 .…”