https://scholars.lib.ntu.edu.tw/handle/123456789/527345
標題: | Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease | 作者: | LEE-CHIN WONG Hsu C.-J. WANG-TSO LEE |
公開日期: | 2019 | 出版社: | Elsevier B.V. | 卷: | 41 | 期: | 9 | 起(迄)頁: | 817-819 | 來源出版物: | Brain and Development | 摘要: | Neuronal ceroid lipofuscinoses type 2 disease (CLN2) is a very rare, autosomal recessive neurodegerative disease caused by deficient activity of the enzyme tripeptidyl peptidase 1 (TPP1). The seizures in CLN2 are polymorphic and resistant to antiepileptic drugs. In particular, myoclonus (epileptic and non-epileptic) predominant as the disease progresses. Herein, we present a child of CLN2 disease, who had near-continuous myoclonus, and was subsequently attenuated by administration of Perampanel. This girl had initially presented with language delay and generalized tonic clonic seizure at 3 years of age. The diagnosis of CLN2 was made via genetic study, which showed compound heterozygous mutation on TPP1 gene (c.622 C > T and partial gene deletion including at least exons 1–3). Currently, at the age of 8 years, there was near-continuous myoclonus (epileptic and non-epileptic), which worsen during acute illness. Eventually, she was given Perampanel with starting dose of 1 mg/day and slowly titrated upto 6 mg/day in 4 weeks. There was significant attenuation of myoclonus (>50% seizure reduction). To our knowledge, this is the first case in the literature describing the efficacy of perampanel in treating myoclonus in CLN2 disease. ? 2019 The Japanese Society of Child Neurology |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85065840954&doi=10.1016%2fj.braindev.2019.05.001&partnerID=40&md5=1f382ff9735498d39a19a6b8aced0f50 https://scholars.lib.ntu.edu.tw/handle/123456789/527345 |
ISSN: | 0387-7604 | DOI: | 10.1016/j.braindev.2019.05.001 | SDG/關鍵字: | clobazam; levetiracetam; perampanel; phenobarbital; piracetam; topiramate; tripeptidyl peptidase I; valproic acid; aminopeptidase; anticonvulsive agent; dipeptidyl peptidase; perampanel; pyridone derivative; serine proteinase; tripeptidyl-peptidase 1; Article; ataxia; case report; cerebellum atrophy; child; clinical article; drug dose titration; electroencephalogram; epileptic discharge; exon; female; gene deletion; gene mutation; heterozygote; human; ketogenic diet; language delay; late infantile neuronal ceroid lipofuscinosis; mental deterioration; myoclonus; myoclonus epilepsy; myoclonus seizure; nuclear magnetic resonance imaging; school child; seizure; skin biopsy; sleep quality; tonic clonic seizure; treatment duration; diagnostic imaging; genetics; mutation; myoclonus; neuronal ceroid lipofuscinosis; pathophysiology; Aminopeptidases; Anticonvulsants; Child; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; Female; Humans; Mutation; Myoclonus; Neuronal Ceroid-Lipofuscinoses; Pyridones; Serine Proteases |
顯示於: | 醫學系 |
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