Unverricht-Lundborg disease in an adult female patient: a clinical case
https://doi.org/10.14412/2074-2711-2017-1S-56-61
Abstract
We have considered it appropriate to publish this case due to the rarity of progressive myoclonus epilepsy; diagnostic difficulties, particularly in the early stages of the disease (the female patient has been long followed up for diagnosed juvenile myoclonic epilepsy); the relative role of a genetic study because it has not brought results in this case, and, finally, a problem with therapy, and a significant contribution to the achievement of certain success of currently available antiepileptic drugs, levetiracetam in particular.
About the Authors
V. A. Karlov
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
I. A. Zhidkova
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
E. Yu. Mishina
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
P. N. Vlasov
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
N. V. Margosyuk
N.E. Bauman City Clinical Hospital Twenty-Nine
Russian Federation
2, Gospitalnaya Sq., Moscow 111020
Russian Federation
2, Gospitalnaya Sq., Moscow 111020
L. P. Tingaeva
N.E. Bauman City Clinical Hospital Twenty-Nine
Russian Federation
2, Gospitalnaya Sq., Moscow 111020
Russian Federation
2, Gospitalnaya Sq., Moscow 111020
E. M. Perepelova
I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
Russian Federation
8, Trubetskaya St., Build. 2, Moscow 119991
Russian Federation
8, Trubetskaya St., Build. 2, Moscow 119991
V. A. Perepelov
I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
Russian Federation
8, Trubetskaya St., Build. 2, Moscow 119991
Russian Federation
8, Trubetskaya St., Build. 2, Moscow 119991
B. P. Gladov
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
S. A. Trukhanov
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
Russian Federation
20, Delegatskaya St., Build. 1, Moscow 127473
References
1. Genton P, Malafosse A, Mouland B, et al. (eds). Epileptic Syndromes in Infansy, Childhood and Adolescence. 4th ed. France: John Libbey Evrotext Ltd; 2005. P. 441-65.
2. Карлов ВА. Эпилепсия у детей и взрослых женщин и мужчин: Руководство для врачей. Москва: Медицина; 2010. 720 с. [Karlov VA. Epilepsiya u detey i vzroslykh zhenshchin i muzhchin: Rukovodstvo dlya vrachey [Epilepsy in children and adult women and men: A guide for doctors]. Moscow: Meditsina; 2010. 720 p. (In Russ.)].
3. Мухин КЮ, Миронов МБ, Петрухин АС. Эпилептические синдромы. Диагностика и терапия. Руководство для врачей. Москва: Системные решения; 2014. С. 258-68 [Mukhin KYu, Mironov MB, Petrukhin AS. Epilepticheskie sindromy. Diagnostika i terapiya. Rukovodstvo dlya vrachey. [Epileptic syndromes. Diagnosis and therapy. A guide for doctors]. Moscow: Sistemnye resheniya; 2014. P. 258-68 (In Russ.)].
4. Одинак ММ, Прокудин МЮ, Скиба ЯБ и др. Прогрессирующие миоклонус-эпилепсии. Эпилепсия и пароксизмальные состояния. 2013;5(2):54-6 [Odinak MM, Prokudin MYu, Skiba YaB, et al. Progressive myoclonus-epilepsies. Epilepsiya i Paroksizmal'nye Sostoyaniya. 2013;5(2):54-6 (In Russ.)].
5. Duarte AJ, Ribeiro D, Chaves J, Amaral O. Characterization of a rare Unverricht-Lundborg disease mutation. Mol Genet Metab Rep. 2015 Sep;4:68-71. doi: 10.1016/j.ymgmr.2015.07.005
6. Вельтищев ЮЕ, Темин ПА. Наследственные болезни нервной системы. Руководство для врачей. Москва: Медицина; 1998. С. 375-86 [Vel'tishchev YuE, Temin PA. Nasledstvennye bolezni nervnoy sistemy. Rukovodstvo dlya vrachey [Hereditary diseases of the nervous system. A guide for doctors]. Moscow: Meditsina; 1998. P. 375-86 (In Russ.)].
7. Ferlazzo E, Canafoglia L, Michelucci R, et al. Mild Lafora disease: Clinical, neurophysiologic, and genetic findings. Epilepsia. 2014;55(12):e129-e133. doi: 10.1111/epi.12806
8. Kä lviä inen R, Khyuppenen J, Koskenkorva P, et al. Clinical picture of EPM1-Unverricht- Lundborg disease. Epilepsia. 2008;49:549-56. doi: 10.1111/j.1528-1167.2008.01546.x
Review
For citations:
Karlov V.A., Zhidkova I.A., Mishina E.Yu., Vlasov P.N., Margosyuk N.V., Tingaeva L.P., Perepelova E.M., Perepelov V.A., Gladov B.P., Trukhanov S.A. Unverricht-Lundborg disease in an adult female patient: a clinical case. Neurology, Neuropsychiatry, Psychosomatics. 2018;10(1S):56-61. (In Russ.) https://doi.org/10.14412/2074-2711-2017-1S-56-61
Views: 1077
Email this article 