Volume 6, Issue 3, September 2018, Page: 72-77
An Autistic Female with Refractory Juvenile Myoclonic Epilepsy and Sequelae of Neonatal Cerebellar Insults, Effectively Treated with Perampanel
Atushi Nishimura, Department of Pediatric Neurology, Ashikaganomori Ashikaga Hospital, Tochigi, Japan; Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Toshiaki Abe, Department of Pediatric Neurology, Ashikaganomori Ashikaga Hospital, Tochigi, Japan; Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan
Takao Harasawa, Department of Pediatric Neurology, Ashikaganomori Ashikaga Hospital, Tochigi, Japan
Hiroshi Oba, Department of Radiology, Teikyo University School of Medicine, Tokyo, Japan
Received: May 31, 2018;       Accepted: Aug. 6, 2018;       Published: Sep. 3, 2018
DOI: 10.11648/j.ajpn.20180603.14      View  412      Downloads  24
Abstract
The patient was a 27-year-old mildly intellectually disabled woman with autistic spectrum disorder (ASD) and juvenile myoclonic epilepsy (JME). The patient’s condition had shown resistance to many antiepileptic drugs; however, perampanel (PER) was effective. The patient’s electroencephalogram (EEG) records were consistent with those of JME, and brain magnetic resonance imaging showed a normal cerebrum and limbic system but the characteristic sequelae of cerebellar insults, such as cerebellitis. The discontinuation of lamotrigine (LTG) induced suspected myoclonic atonic seizures (MAS) that were worsened by adding levetiracetam (LEV) but improved by the administration of rafinamide (RFN). The further administration of PER improved all symptoms and EEG findings of the patient within two weeks, and the patient has been seizure-free for more than two years. The present case report demonstrates that the sequelae of neonatal cerebellitis can cause JME, and the withdrawal of LTG induces myoclonic atonic seizures. PER can modify the pathogenic cerebellar focus of JME.
Keywords
Juvenile Myoclonic Epilepsy, Cerebellar Hyperintensity Area, Sequel, Cerebellar Insults, Cerebellar Seizures, Lamotrigine Withdrawal Syndrome, Perampanel
To cite this article
Atushi Nishimura, Toshiaki Abe, Takao Harasawa, Hiroshi Oba, An Autistic Female with Refractory Juvenile Myoclonic Epilepsy and Sequelae of Neonatal Cerebellar Insults, Effectively Treated with Perampanel, American Journal of Psychiatry and Neuroscience. Vol. 6, No. 3, 2018, pp. 72-77. doi: 10.11648/j.ajpn.20180603.14
Copyright
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Reference
[1]
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E. Seizure outcome in 175 patients with juvenile myoclonic epilepsy-A long-term observational study. Epilepsy Research 2014; 108:1817-1824.
[2]
Sansa G, Carlson C, Doyle W, Weiner HL, Bluvstein J, Barr W, Devinsky O. Medically refractory epilepsy in autism. Epilepsia 2011; 52:1071-1075. doi:1111/.1528-1167.2011. 03069.x.
[3]
Jiang S, Luo C, Liu Z, Hou C, Wang P, Dong L, Zhong C, Lai Y, Xia Y, Yao D. MR spectroscopy shows reduced frontal lobe concentrations of N-acetyl aspartate in patients with juvenile myoclonic epilepsy. Neural Plast 2016; 3547203. Epub 2015 Dec 28.
[4]
Tae WS, Joo EY, Han SJ, Lee KH, Hong SB. CBF changes in drug naive juvenile myoclonic epilepsy patients. J Neurol 2007; 254:1073-80. Epub 2007 Mar 12.
[5]
O'Muircheartaigh J1, Vollmar C, Barker GJ, Kumari V, Symms MR, Thompson P, Duncan JS, Koepp MJ, Richardson MP. Abnormal thalamocortical structural and functional connectivity in juvenile myoclonic epilepsy. Brain. 2012; 135 (Pt 12):3635-44. doi: 10.1093/brain/aws296.
[6]
Jiang S, Luo C, Gong J, Peng R, Ma S, Tan S, Ye G, Dong L, Yao D. Aberrant Thalamocortical Connectivity in Juvenile Myoclonic Epilepsy. Int J Neural Syst. 2017; 13:1750034. doi: 10.1142/S0129065717500344. [Epub ahead of print].
[7]
Kotini A1, Mavraki E, Anninos P, Piperidou H, Prassopoulos P. Magnetoencephalographic findings in two cases of juvenile myoclonus epilepsy. Brain Topogr 2010; 23:41-5. doi: 10.1007/s10548-009-0114-5. Epub 2009 Sep 29.
[8]
Kano M, Hashimoto K, Tabata T. Type-1 metabotropic glutamate receptor in cerebellar Purkinje cells: a key molecule responsible for long-term depression, endocannabinoid signalling and synapse elimination. Philos Trans R Soc Lond B Biol Sci 2008; 363 (1500):2173-2186.
[9]
Benagiano V, Rizzi A, Lorusso L, Flace P, Saccia M, Cagiano R, Ribatti D, Roncali L, Ambrosi G. The functional anatomy of the cerebrocerebellar circuit: A review and new concepts. J Comp Neurol 2017; 14: doi: 10.1002/cne.24361. [Epub ahead of print].
[10]
Boop S, Wheless J, Van Poppel K, McGregor A, Boop FA. Cerebellar seizures. J Neurosurg Pediatr 2013; 12:288-92. doi: 10.3171/2013.5. PEDS1394. Epub 2013 Jun 28.
[11]
Baykan B, Wolf P. Juvenile myoclonic epilepsy as a spectrum disorder: A focused review. Seizure 2017; 49:36-41. doi: 10.1016/j.seizure.2017.05.011. Epub 2017 May 18.
[12]
De Bruecker Y, Claus F, Ballaux F, et al. MRI findings in acute cerebellitis. European Radiology 2004; 14:1478–1483.
[13]
Al-Maawali A, Blaser S, Zhao XY, Yoon G. Prospective study of activities of daily living outcomes in children with cerebellar atrophy. Dev Med Child Neurol 2014; 56:460-7. doi: 10.1111/dmcn.12289. Epub 2013 Oct 1.
[14]
Annegers JF, Coan SP, Hauser WA, Leestma J. A population-based study of seizures after traumatic brain injuries. N Engl J Med 1998; 338:20-24.
[15]
Kovács AD, Hof C, Pearce DA. Abnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3 (-/-) mice. Neurosci Lett 2015; 607:29-34. doi: 10.1016/j.neulet.2015.09.012. Epub 2015 Sep 12.
[16]
Rogawski MA, Hanada T. Preclinical pharmacology of perampanel, a selective non-competitive AMPA receptor antagonist. Acta Neurol Scand Suppl 2013; 197:19-24. doi: 10.1111/ane.12100.
[17]
Rogawski MA. AMPA receptors as a molecular target in epilepsy therapy. Acta Neurol Scand Suppl 2013; 197:9-18. doi: 10.1111/ane.12099.
[18]
Lippman-Bell JJ, Rakhade SN, Klein PM, Obeid M, Jackson MC, Joseph A, Jensen FE. AMPA receptor antagonist NBQX attenuates later-life epileptic seizures and autistic-like social deficits following neonatal seizures. Epilepsia 2013; 54:1922-32. doi: 10.1111/epi.12378.
[19]
Kelly SA, Kossoff EH. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Devlop Med & Child Neurol 2010; 52:988-993.
[20]
Wang-Tilz Y, Tilz C, Wang B, Pauli E, Koebnick C, Stefan H. Changes of seizures activity during rapid withdrawal of lamotrigine. Eur J Neurol 2005; 12:280-8.
[21]
Kröll-Seger J1, Mothersill IW, Novak S, Sälke-Kellermann RA, Krämer G. Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. Epileptic Disord 2006; 8:213-8.
[22]
Albini M, Morano A, Fanella M, Lapenta L, Casciato S, Fattouch J, Manfredi M, Giallonardo AT, Di Bonaventura C. Effectiveness of rufinamide in the treatment of idiopathic generalized epilepsy with atypical evolution: case report and review of the literature. Clin EEG Neurosci 2016; 47:162-6. doi: 10.1177/1550059414559940. Epub 2014 Nov 23.
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