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  • Clinical case of pseudoremission of juvenile myoclonic epilepsy (Janz syndrome)

    Редактор | 2017, Clinical case, Practical medicine 01 (17) Neurology | 1 марта, 2017

    M.R. SAPRONOVA, N.A. SHNAYDER, O.S. SHILKINA

    Krasnoyarsk State Medical University named after Prof. V.F. Voyno-Yasenetsky, 1 Partizan Zheleznyak Str., Krasnoyarsk, Russian Federation, 660022

     Sapronova M.R. ― Cand. Med. Sc., Assistant of the Department of Medical Genetics and Clinical Neurophysiology of the Postgraduate Education Institute, neurologist of the Neurological Center of Epileptology, Neurogenetics and Brain Research of the University Clinic, tel. (391) 201-65-24, e-mail: sapronova.mr@yandex.ru

    Shnayder N.A. ― D. Med. Sc., Professor, Head of the Department of Medical Genetics and Clinical Neurophysiology of the Postgraduate Education Institute, Head of the Neurological Center of Epileptology, Neurogenetics and Brain Research of the University Clinic, tel. (391) 201-65-24, e-mail: nataliashnayder@gmail.com

    Shilkina O.S. ― postgraduate student of the Department of Medical Genetics and Clinical Neurophysiology of the Postgraduate Education Institute, neurologist of the Neurological Center of Epileptology, Neurogenetics and Brain Research of the University Clinic, tel. (391) 201-65-24, e-mail: olgabbn@mail.ru

     Juvenile myoclonic epilepsy (JME) is a form of idiopathic generalized epilepsy of adolescence, characterized by the emergence of massive myoclonic seizures occurring after awakening, generalized tonic-clonic seizures and typical absence seizures, which are usually very light and simple. The age of the onset of JME varies from 7 years to 21 years. In some cases the disease may start at an earlier age with absence seizures or generalized seizures, followed by the addition of myoclonic seizures in puberty. JME is characterized by a high frequency of failure of remission, aided mainly by sleep deprivation, photosensitivity (1/3 of patients), mental and emotional stress, fatigue and excessive alcohol consumption. The absence or disappearance of the clinical picture of generalized tonic-clonic seizures can lead to erroneous conclusion about remission of the disease. The article presents the clinical case of JME pseudoremission in a 41 years old man.

    Key words: idiopathic generalised epilepsy, juvenile myoclonic epilepsy, JME, Janz syndrome, pseudoremission, videomonitoring, electroencephalography.

    REFERENCES

    1. Shnayder N.A., Shilkina O.S., Petrov K.V. et al. Clinical and genetic heterogeneity of juvenile myoclonic epilepsy. Epilepsiya i paroksizmal’nye sostoyaniya, 2016, no. 2, pp. 20-36 (in Russ.).
    2. Syvertsen M., Hellum M.K., Hansen G., et al. Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway. Epilepsia, 2016, doi: 10.1111/epi.13613. [Epubaheadofprint]
    3. Artyukhov I.P., Shilkina O.S., Shnayder N.A., et al. Case report of management problem of juvenile myoclonic epilepsy. Case Reports in Clinical Medicine, 2016, vol. 5, pp. 217-224.
    4. Mukhin K.Yu., Freydkova N.V., Glukhova L.Yu. et al. Juvenile myoclonic epilepsy: a focus on the effectiveness of therapy and the frequency of relapses according to the long-term catamnesis. Russkiy zhurnal detskoy nevrologii, 2015, vol. 10, pp. 7-16 (in Russ.).
    5. Yacubian E.M. Juvenile myoclonic epilepsy: Challenges on its 60th anniversary. Seizure, 2016, doi: 10.1016/j.seizure.2016.09.005.
    6. Shnayder N.A. Video monitoring of electroencephalography with epilepsy. Sibirskoe meditsinskoe obozrenie, 2016, no. 2 (98), pp. 93-105 (in Russ.).
    7. Najafi M.R., Najafi M.A., Safaei A. Association of family history of epilepsy with earlier age onset of juvenile myoclonic epilepsy. Iran J. Child Neurol, 2016, 10 (2), pp. 10-5.

    Метки: 2017, electroencephalography, idiopathic generalised epilepsy, Janz syndrome, JME, juvenile myoclonic epilepsy, M.R. SAPRONOVA, N.A. SHNAYDER, O.S. SHILKINA, Practical medicine 01 (17) Neurology, pseudoremission, videomonitoring

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