Vol. 30-31/2021-2022 Nr 60
okładka czasopisma Child Neurology
powiększenie okładki
Journal Info

CHILD NEUROLOGY

Journal of the Polish Society of Child Neurologists

PL ISSN 1230-3690
e-ISSN 2451-1897
DOI 10.20966
Semiannual


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Zespół Jeavonsa - od patofizjologii do leczenia


Jeavons syndrome - from pathophysiology to treatment




Szpital Kliniczny im. Heliodora Święcickiego UM w Poznaniu, Oddział Kliniczny Neurologii Dzieci i Młodzieży

https://doi.org/10.20966/chn.2020.59.472
Neurol Dziec 2020; 29, 59: 75-80
Full text PDF Zespół Jeavonsa - od patofizjologii do leczenia



STRESZCZENIE
Zespół Jeavonsa (ZJ) to rzadki, genetycznie uwarunkowany zespół padaczkowy charakteryzujący się miokloniami powiek z upośledzeniem świadomości lub z jej zachowaniem. Napady mogą wystąpić pod wpływem fotostymulacji lub zostać wyindukowane przez pacjenta poprzez zamknięcie powiek. Mioklonie powiek stanowią główny typ napadów, ale zwykle są błędnie interpretowane lub przeoczane, dopóki nie rozwiną się inne typy napadów lub nie zostanie wykonane wideo-EEG. Najskuteczniejszymi lekami wydają się być kwas walproinowy i lewetyracetam, często jednak dochodzi do rozwoju padaczki lekoopornej. Duża różnica między wiekiem wystąpienia pierwszych objawów a postawieniem prawidłowego rozpoznania potwierdza fakt, iż choroba ta stwarza istotne problemy diagnostyczne.

Słowa kluczowe: zespół Jeavonsa, mioklonie powiek, napady nieświadomości


ABSTRACT
Jeavons syndrome (JS) is a rare genetically determined epilepsy syndrome characterized by eyelid myoclonia with or without absences. Seizures may occur under the influence of photostimulation or be induced by the patient by closing the eyelids. Eyelid myoclonia is the main type of seizures, but they are usually misinterpreted or overlooked until other seizure types develop or video-EEG is performed. The most effective drugs seem to be valproic acid and levetiracetam, however, drug-resistant epilepsy often develops. The large difference between the age of onset and correct diagnosis confirms that this disease poses serious diagnostic problems.

Key words: Jeavons syndrome, eyelid myoclonia, absences


PIŚMIENNICTWO
[1] 
Jeavons P.M.: Nosological problems of myoclonic epilepsies in childhood and adolescence. Dev. Med. Child Neurol. 1977; 19: 3–8.
[2] 
Radovici M.M., Misirliou V.L., Gluckman M.: Epilepsie reflexe provoquee par excitations optiques des rayons solitaires. Revue Neurologique 1932; 1: 1305-1308.
[3] 
Engel J.Jr.: International League Against Epilepsy (ILAE): A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology. Epilepsia 2001; 42: 796–803.
[4] 
Berg A.T., Berkovic S.F., Brodie M.J., et al.: Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005-2009. Epilepsia 2010; 51:676–685.
[5] 
Fisher R.S., Cross J.H., French J.A., et al.: Operational classification of seizure types by the international league against epilepsy: position paper of the ILAE commission for classification and terminology. Epilepsia 2017; 58: 522–530.
[6] 
Zifkin B.G., Kasteleijn-Nolst Trenité D.G.: Reflex epilepsy and reflex seizures of the visual system: A clinical review; Epileptic Disorders: International Epilepsy Journal with Videotape 2000;2:129-136.
[7] 
Caraballo R.H., Fontana E., Darra F., et al.: A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome. Seizure 2009; 18: 440-445.
[8] 
Fournier-Goodnight A.S., Gabriel M., Perry M.S.: Preliminary neurocognitive outcomes in Jeavons syndrome. Epilepsy Behav. 2015; 52 (Pt A): 260-263.
[9] 
Panayioutopoulos C.P.: A clinical Guide to Epileptic Syndromes and their Treatment, London, 2007, 453-457.
[10] 
Smith K.M., Youssef P.E., Wirrell E.C., et al.: Jeavons syndrome: Clinical Features and Response to Treatment, Pediatr. Neurol. 2018; 86: 46-51.
[11] 
Zawar I., Knight E.M.P.: An Overview of the Electroencephalographic (EEG) Features of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome), The Neurodiagnostic Journal, 2020; 60: 2, 113-127.
[12] 
Steinborn B.: Neurologia wieku rozwojowego, PZWL Warszawa 2017, 372.
[13] 
Adachi M., Inoue T., Tsuneishi S., et al.: Eyelid myoclonia with absences in monozygotic twins, Pediatrics International 2005; 47: 343–347.
[14] 
Yang T., Liu Y., Liu L., et al.: Absence status epilepticus in monozygotic twins with Jeavons syndrome. Epileptic Disord. 2008; 10: 227–230.
[15] 
Sadleir L.G., Vears D., Regan B., et al.: Family studies of individuals with eyelid myoclonia with absences. Epilepsia. 2012; 53: 2141–2148.
[16] 
Wang X.L., Bao J.X., Liang-Shi J.X., et al.: Jeavons syndrome in China. Epilepsy Behav 2014; 32: 64-71.
[17] 
Reyhani A. ,Özkara Ç.: Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature, Epileptic Disord 2020; 22: 281-290.
[18] 
Striano S., Capovilla G., Sofia V., et al.: Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? Epilepsia 2009;50 Suppl 5:15-19.
[19] 
Yalçin A.D., Forta H., Kiliç E.: Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. Seizure. 2006; 15: 359-365.
[20] 
Beaumanoir A. Gastaut H. Naquet R.: Reflex seizures and reflex epilepsies. Medecine & Hygiene, Geneve 1989: 193-200.
[21] 
Scuderi C. Musumeci S.A. Ferri R., et al.: Eyelid myoclonia with absences in three subjects with mental retardation. Neurol Sci. 2000; 21: 247-250.
[22] 
Ogura K. Maegaki Y. Koeda T.: EEG evaluation of fixation-off sensitivity in eyelid myoclonia with absences. Pediatr Neurol. 2005; 33: 142-145.
[23] 
Sevgi Demirci E.B., Saygi S.: Unusual features in eyelid myoclonia with absences: a patient with mild mental retardation and background slowing on electroencephalography. Epilepsy Behav 2006; 8: 442–445.
[24] 
Viravan S., Go C., Ochi A., et al.: Jeavons syndrome existing as occipital cortex initiating generalized epilepsy, Epilepsia 2011; 52: 1273-1279.
[25] 
Topaloglu Tuac S., Yalcınkaya C., Demirbilek V.: Jeavons syndrome: 12 cases. Epilepsi 2017; 23: 72-76.
[26] 
Giraldez B.G., Serratosa J.M.: Jeavons syndrome as an occipital cortex initiated generalized epilepsy: further evidence from a patient with a photic-induced occipital seizure. Seizure 2015; 32: 72-74.
[27] 
Giuliano L., Mostile G., Fatuzzo D., et al.: Abnormal visual sensitivity in eyelid myoclonia with absences: evidence from electrocortical connectivity and non-linear quantitative analysis of EEG signal. Seizure 2019b; 69: 118-124.
[28] 
Kaiboriboon K., Luders H.O., Miller J.P., et al.: Upward gaze and head deviation with frontal eye field stimulation. Epileptic Disord 2012; 14: 64-68.
[29] 
Vaudano A.E., Ruggieri A., Tondelli M., et al. The visual system in eyelid myoclonia with absences. Ann Neurol 2014; 76: 412-427.
[30] 
Nar Senol P., Tezer F.I., Saygı S.: Eyelid myoclonia seizure in adults: an alternate look at the syndrome paradox. Epilepsy Behav 2015; 45: 265- 270.
[31] 
Takahashi S., Yamamoto S., Tanaka R., et al.: Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures. Epilepsy Behav Case Rep 2015; 4: 35-37.
[32] 
Galizia E.C., Myers C.T., Leu C., et al.: CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain. 2015; 138: 1198–1207.
[33] 
Sosa R.B., Nangia S., Photosensitivity and CHD2 Variants: Pediatric Neurology Briefs 2015; 29: 66.
[34] 
Parissis D., Ioannidis P., Karacostas D.: Levetiracetam as alternative treatment in Jeavons syndrome. J Neurol Sci. 2014; 341: 147-149.
[35] 
Striano P., Sofia V., Capovilla G., et al. A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome). Epilepsia. 2008; 49: 425-430.
[36] 
Zawar I, Franic L,Knight EP, Response to lacosamide monotherapy in a patient with medically refractory Jeavons syndrome: a case report and review of the literature, Epileptic Disord 2020; 22 (5): 643-647.
[37] 
Tenney JR, Glauser TA. The Current State of Absence Epilepsy: Can we have your attention? Epilepsy Currents 2013; 13: 135-140.
[38] 
Vrielynck P. Current and emerging treatments of absence seizures in young patients. Neuropsychiatric Disease and Treatment 2013; 9: 963-975.
[39] 
Incorpora G. Sofia V. Pavone P. Biondi R. Barone B. Parano E. Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy. Eur J Pediatr. 2002; 161: 175-177.
[40] 
Greenberg M.S.: Handbook of Neurosurgery 9th Edition, Georg Thieme, New York, Stuttgart, Delhi, Rio de Janeiro 2019, 1678.
[41] 
Kokkinos V., Urban A., Sisterson N.D., et al.: Responsive Neurostimulation of the Thalamus Improves Seizure Control in Idiopathic Generalized Epilepsy: A Case Report. Neurosurgery, 2020;87: 578–583.
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