肌阵挛发作 癫 共济失调
A 16-year-old boy with myoclonus, epilepsy and ataxia
摘要
患者男性，16岁。发作性意识丧失伴肢体抽搐4年、双上肢抖动2年、加重2个月，于2013年9月4日人院。患者于4年前玩游戏时出现双眼反复眨眼，随即意识丧失、呼之不应，伴四肢抽搐、双眼上翻、面部发紫，无大小便失禁和舌咬伤，每次发作持续约2min后自行缓解。当地医院诊断为“癫痫”，
出处
《中国现代神经疾病杂志》
CAS
2014年第3期266-270,共5页
Chinese Journal of Contemporary Neurology and Neurosurgery
参考文献27
-
1Jameson E,Morris AA.Mitochondrial disease:a review.Paediatr Child Health,2011,21:80-83.
-
2Finsterer J,Zarrouk Mahjoub S.Epilepsy in mitochondrial disorders.Seizure,2012,21:316-321.
-
3Larsson NG,Tulinius MH,Holme E,Oldfors A,Andersen O,WahlstrSm J,Aasly J.Segregation and manifestations of the mtDNA tRNA (Lys) A->G (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.Am J Hum Genet,1992,51:1201-1212.
-
4Mancuso M,Orsucci D,Angelini C,Bertini E,Carelli V,Comi GP,Minetti C,Moggio M,Mongini T,Servidei S,Tonin P,Toscano A,Uziel G,Bruno C,Caldarazzo Ienco E,Filosto M,Lamperti C,Martinelli D,Moroni I,Musumeci O,Pegoraro E,Ronchi D,Santorelli FM,Sauchelli D,Scarpelli M,Sciacco M,Spiuazzi M,Valentino ML,Vercelli L,Zeviani M,Siciliano G.Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.Neurology,2013,80:2049-2054.
-
5Braekmann F,Abieht A,Ahting U,Schrtider R,Trollmann R.Classical MERRF phenotype associated with mitochondrial tRNA (Leu) (m.3243A>G) mutation.Eur J Pediatr,2012,171:859-862.
-
6Zaganas I,Latsoudis H,Papadaki E,Vorgia P,Spilioti M,Plaitakis A.A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.J Neurol,2009,256:271-273.
-
7Masucci JP,Schon EA,King MP.Point mutations in the mitochondrial tRNA (Lys) gene:implications for pathogenesis and mechanism.Mol Cell Biochem,1997,174(1/2):215-219.
-
8Shoffner JM,Lott MT,Lezza AM,Seibel P,Ballinger SW,Wallace DC.Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA (Lys) mutation.Cell,1990,61:931-937.
-
9Silvestri G,Ciafaloni E,Santorelli FM,Shanske S,Servidei S,Graf WD,Sumi M,DiMauro S.Clinical features associated with the A->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").Neurology,1993,43:1200-1206.
-
10Schapira AH.Mitochondrial disease.Lancet,2006,368:70-82.
-
1尘缘.我年已三十三[J].当代护士（上旬刊）,2004,11(9):48-48.
-
2苏学宁,胆迎,刘洋.奥卡西平诱发低钠血症一例[J].中国现代神经疾病杂志,2014,14(9):832-833. 被引量：8
-
3张楚涵.为你而快乐[J].家庭健康（医学科普）,2006(6):23-24.
-
4雷刚,尤红,葛力,柳平.8例线粒体脑肌病的临床、影像及病理特点[J].宁夏医科大学学报,2013,35(6):702-704.
-
5罗晓丹,刘启发,徐丹,孙竞.异基因造血干细胞移植后环孢素治疗相关的类线粒体脑肌病一例[J].中华血液学杂志,2007,28(2):144-144.
-
6苗杰.游戏在中等职业学校心理健康教育教学中的应用[J].校园心理,2012,10(2):102-103. 被引量：1
-
7何庚荣,刘素英.肝豆状核变性1例[J].中国冶金工业医学杂志,2007,24(z1). 被引量：1
-
8丙戊酸的发现[J].中国现代神经疾病杂志,2014,14(12):1073-1073.
-
9章岩,栾光法,朱海燕.以牙痛为首发症状的颈椎病1例[J].实用疼痛学杂志,1998(2):62-62.
-
10白晶,耿同超.肌阵挛性小脑协调障碍1例[J].中日友好医院学报,1992,6(2):107-107.
