儿童多巴反应性肌张力障碍2例
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摘要
目的:探讨儿童多巴反应性肌张力障碍的临床表现、诊断及治疗方法,加强对儿童多巴反应性肌张力障碍的认识和重视。方法:回顾性分析2例多巴反应性肌张力障碍患儿的临床资料,并进行相关文献复习。结果:2例患儿分别为1名男性和1名女性,分别于2岁3个月及1岁4个月起病,均表现为缓慢起病的四肢僵硬、活动困难,部分患儿伴有肢体震颤、构音不清、吞咽困难,症状均呈"晨轻暮重";双下肢腱反射活跃至亢进,病理征阳性,有足部畸形;头颅CT、MRI、脑电图、MMSE、诱发电位、血清铜蓝蛋白、肌电图、诱发电位、血沉、抗O均正常;小剂量多巴制剂对2例患儿均有显著疗效。结论:本病是一种较为罕见的遗传性运动障碍疾病,临床诊断不难,小剂量多巴制剂有显著、持续疗效,早期治疗效果好。
引文
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[14]Furukawa Y.Genetics and biochemistry of dopa-responsive dystonia:significance of striatal tyrosine hydroxylase protein loss[J].Adv Neurol,2003,91:401-410.
[15]Segawa M,Nomura Y,Nishiyama N.Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency(Segawa disease)[J].Ann Neurol,2003,54 Suppl 6:S32-S45.
[16]Segawa M,Numura Y.Hereditary progressive dystonia with marked diurnal fluctuation.Pathophysiological importance of the age of onset[J].Adv Neurol,1993,60:568-576.
[17]利婧,胡朝晖,喻长顺,等.多巴反应性肌张力障碍长期随访四例[J].中华神经科杂志,2013,46(3):153-158.
[2]程璇,陆强彬.潘松青,等.同卵双生多巴反应性肌张力障碍2例并临床分析[J].卒中与神经疾病,2009,16(3):183.
[3]Chen RS,Huang CC,Lu CS.Dopa-responsive dystonia:clinical and family study in Taiwanese[J].Clin Neurol Neurosurg,1996,98(1):43-46.
[4]Segawa M.Hereditary progressive dystonia with marked diurnal fluctuation[J].Brain Dev,2011,33(3):195-201.
[5]Müller U,Steinberger D,Topka H.Mutations of GCH1 in Doparesponsive dystonia[J].J Neural Transm(Vienna),2002,109(3):321-328.
[6]Liu X,Zhang SS,Fang DF,et al.GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia[J].Mov Disord,2010,25(4):447-451.
[7]Ichinose H,Inagaki H,Suzuki T,et al.Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation,Segawa's disease[J].Brain Dev,2000,22 Suppl 1:S107-S110.
[8]Ichinose H,Ohye T,Takahashi E,et al.Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene[J].Nat Genet,1994,8(3):236-242.
[9]Swaans RJ,Rondot P,Renier WO,et al.Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism[J].Ann Hum Genet,2000,64(Pt 1):25-31.
[10]Furukawa Y,Kish SJ,Fahn S.Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency[J].Ann Neurol,2004,55(1):147-148.
[11]Furukawa Y,Graf WD,Wong H,et al.Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase(TH)gene mutations[J].Neurology,2001,56(2):260-263.
[12]Stanley F,Joseph J,Mark H.Principles and Practice of Movement Disorders[M].Second Edition.Oxford:Elsevier Limited,2011:259-310.
[13]Barrett MJ,Bressman S.Genetics and pharmacological treatment of dystonia[J].Int Rev Neurobiol,2011,98:525-549.
[14]Furukawa Y.Genetics and biochemistry of dopa-responsive dystonia:significance of striatal tyrosine hydroxylase protein loss[J].Adv Neurol,2003,91:401-410.
[15]Segawa M,Nomura Y,Nishiyama N.Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency(Segawa disease)[J].Ann Neurol,2003,54 Suppl 6:S32-S45.
[16]Segawa M,Numura Y.Hereditary progressive dystonia with marked diurnal fluctuation.Pathophysiological importance of the age of onset[J].Adv Neurol,1993,60:568-576.
[17]利婧,胡朝晖,喻长顺,等.多巴反应性肌张力障碍长期随访四例[J].中华神经科杂志,2013,46(3):153-158.