DIAGNOSTIC DIFFICULTIES IN PATIENTS WITH JUVENILE MYOCLONIC EPILEPSY
Abstract
Objective: Â 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.Â
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Dreifuss FE. Juvenile myoclonic epilepsy: characteristics of a primary generalized epilepsy.Epilepsia. 1989; 30(Suppl. 4): S1– 7; discussion S24â€7.
Nordli DR Jr. Idiopathic generalized epilepsies recognized by the International League Against Epilepsy. Epilepsia. 2005;46 (Suppl 9):48-56.
Eadie MJ. The epileptology of Theodore Herpin (1799â€1865). Epilepsia. 2002; 43(10): 1256– 61.
Chowdhury A, Brodie MJ. Pharmacological outcomes in juvenile myoclonic epilepsy: Support for sodium valproate. Epilepsy Res. 2016;119:62-6.
Stevelink R, Koeleman BPC, Sander JW, Jansen FE, Braun KPJ. Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. Eur J Neurol. 2019;26(6):856-64.
Atakli D, Sozuer D, Atay T, Baybas S, Arpaci B. Misdiagnosis and treatment in juvenile myoclonic epilepsy. Seizure. 1998;7(1):63-6.
Atakli D, Senadim S, Baslo SA, Güveli BT, Daryan MD, Sari H. Misdiagnosis in JME: still a problem after 17 years ? Seizure. 2016; 36:27-30.
Fernandez-Baca Vaca G, Park JT. Focal EEG abnormalities and focal ictal semiology in generalized epilepsy. Seizure. 2020;77:7-14. doi: 10.1016/j.seizure.2019.12.013. Epub 2019 Dec 20.
Elmali AD, Auvin S, Bast T, Rubboli G, Koutroumanidis M. How to diagnose and classify idiopathic (genetic) generalized epilepsies. Epileptic Disorders.2020; 22(4): 399-420.
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989;30(4):389-99.
Jallon P, Latour P. Epidemiology of idiopathic generalized epilepsies. Epilepsia 2005;46(s9):10-4.
Obeid T, Panayiotopoulos CP. Juvenile myoclonic epilepsy: A study in Saudi Arabia. Epilepsia. 1988;29(3):280–2.
Asadi-Pooya AA, Hashemzehi Z, Emami M. Epidemiology and clinical manifestations of juvenile myoclonic epilepsy (JME) in Iran. Neurol Sci. 2015;36(5):713-6.
Camfield CS, Striano P, Camfield PR. Epidemiology of juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28 (Suppl 1):S15-7.
Kishk N, Mourad H, Ibrahim S, Shamloul R, Al Azazi A, Shalaby N. Sex differences among epileptic patients: a comparison of epilepsy and its impacts on demographic features, clinical characteristics, and management patterns in a tertiary care hospital in Egypt. Egypt J Neurol Psychiatry Neurosurg.2019; 55(1): 39.
Zhang Y, Chen J, Ren J, Liua W, Yanga T, Zhoua D. Clinical features and treatment outcomes of Juvenile myoclonic epilepsy patients. Epilepsia Open. 2019; 4(2): 302–8.
Abdalla SF, ELmagzoub MS, Albagi HA. Juvenile myoclonic epilepsy among Sudanese patients: prevelance and EEG characterizations. J Neurol Stroke. 2017; 6(4): 00207.
Seneviratne U, Cook M, D'Souza W. The electroencephalogram of idiopathic generalized epilepsy. Epilepsia. 2012;53(2):234-48.
Shahnaz, Sher K, Abdul Sattar R. Clinical and EEG characteristics of juvenile myoclonic epilepsy. Pak J Med Sci. 2014;30(1):12-5.
Najafi MR, Najafi MA, Safaei A. Association of family history of epilepsy with earlier age onset of juvenile myoclonic epilepsy. Iran J Child Neurol. 2016; 10(2):10-5.
Cacao G, Parra J, Mannan S, Sisodiya SM, Sander JW. Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center. Epilepsy Behav. 2018;82:81-6.
Chen Y, Chen J, Chen X, Wang R, Zeng J, Wang F, et al. Predictors of outcome in juvenile myoclonic epilepsy. Risk Manag Healthc Policy. 2020;13:609-13.
European Medicines Agency. CMDh agrees to strengthen warnings on the use of valproate medicines in women and girls. https://www.ema.europa.eu/en/ medicines/human/referrals/valproate-related-substances#all-documents-section; 2014, Accessed date: 25 March 2019.
Bosak M, Słowik A, Turaj W. Why do some women with epilepsy use valproic acid despite current guidelines? A single-center cohort study. Epilepsy Behav. 2019; 98(Pt A):1–5.
Genton P, Thomas P, Kasteleijn–Nolst Trenite DG, Medina MT, Salas-Puig J. Clinical aspects of juvenile myoclonic epilepsy. Epilepsy Behav. 2013; 28 ( Suppl. 1) : S8-S14.
DOI: http://dx.doi.org/10.24125/sanamed.v15i3.456
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