SECTION1第一部分

A52-year-oldmanpresentedwithsuddenonsetofacralparesthesiaandimbalance.Thepatientdidnothaveanyrecentillness,sickcontacts,ortravelabroad.Hedeniedweakness,pain,bowelorbladderincontinence,dysphagia,dysarthria,orshortnessofbreath.Onneurologicexamination,1monthintohissymptoms,hehadreducedmusclestrengthinhisfingerspread,extension,andflexiononbothsidesgradedonMedicalResearchCouncilscale4/5andintoeextensors4/4andtoeflexors4/4.Therestofhismusclestrengthwasnormal.Reflexeswereabsentthroughout.Hehadreducedsensationtoallmodalitiesinalength-dependentpatternuptohismidshinandwristsonbothsides.Hewasseverelyunsteadywhenwalkingandhecouldnottandem.Rombergwaspositive.Therestofhisneurologicexaminationwasnormalapartfromhigharchesandhammertoes.ThepatienthadafamilyhistoryofCharcot-Marie-Toothdiseasetype1A(CMT1A)(PMP22duplication)andwashimselftested,althoughasymptomatic,andwasalsofoundtobecarryingthemutation.

患者52岁男性，主要表现为突发肢端感觉异常和平衡障碍。无近期患病、疾病接触及出国旅行史。否认无力、疼痛、大小便失禁、吞咽困难、构音障碍及呼吸困难。神经系统查体，病程1个月，双侧手指外展、伸展及屈曲的力量减弱，根据医学研究委员会量表分级为4/5级，趾伸肌为4/4级，趾屈肌为4/4级。其余肌肉力量正常。所有反射均消失。双侧小腿中部和手腕以远端的所有感觉查体均减弱。行走极度不稳，一字步不能。昂伯氏征阳性。除外高弓畸形及槌状趾，余神经系统查体均阴性。患者有CMT1A的家族史，虽然无症状，但基因检测结果显示患者携带有这种基因突变。

Questionsforconsideration:

1.Whatisyourpreliminarydifferentialdiagnosis?

2.Whatinitialinvestigationswouldyouproposeforthispatient?

需考虑的问题：

1、初步鉴别诊断是什么？

2、建议患者进行的初步检查？

DespitethegeneticallyconfirmedPMP22mutation,therapidonsetandprogressionofthispatient’ssymptomsareconcerning.Asuperimposedprocessshouldbeconsideredandruledout.Forexample,thepatientcanhaveasuperimposedinflammatorypolyneuropathysuchasGuillain-Barresyndrome(GBS)orchronicinflammatorydemyelinatingpolyradiculoneuropathy(CIDP)oraparaneoplasticorneoplasticneuropathy.Certaintoxicexposuressuchasarsenicpoisoningcancausesubacuteneuropathywithasimilarpresentation.InfectiousagentssuchasLymedisease,HIV,andhepatitisCcancausesubacuteGBS-likepresentations.Vasculitiscancausesensorydisturbance,althoughittypicallypresentswithpainfulmultifocalneuropathy.Meningealcarcinomatosiscanpresentwithrapidmotorandsensorydisturbanceincludingcranialneuropathies.Finally,acentralprocesssuchasacervicalcordlesioncausedbyspinalstenosisorademyelinatinglesioncancausesimilarbilateralsensorydisturbance,althoughtheabsenceofuppermotorneuronsignsandasensoryleveldonotsupportthis.

除了被证实的基因PMP22突变，关于患者症状快速起病及进展的情况，需要考虑并排除叠加过程。例如，患者可能有叠加的炎症性多发性神经病，如格林巴利综合征（GBS），慢性炎症性脱髓鞘性多发性神经病（CIDP），副肿瘤性或肿瘤性病变。某些毒物暴露如砷中毒可引起伴有类似表现的亚急性神经病。感染性因素如莱姆病，HIV和丙型肝炎可引起亚急性类GBS表现。血管炎可引起感觉障碍，虽然它通常表现为疼痛性多灶性神经病。脑膜癌可出现快速的运动和感觉障碍涉及颅神经病变。最后，如椎管狭窄引起的颈髓损伤或脱髓鞘病变等脊髓中枢受累均可引起类似的双侧感觉障碍，缺乏上运动神经元损伤体征和无感觉平面，所以并不支持。

Tonarrowthediagnosis,thepatientunderwentadditionaltesting,includingnerveconductionstudyandEMG,MRIofthespine,andCSFexamination.Nerveconductionsstudiesshowedabsentsensoryresponsesoftheupperandlowerlimbswithdemyelinatingfeaturesofthemotorresponses(figure1,table1).

为缩小诊断范围，患者接受了进一步检查，包括神经传导检查和肌电图，脊椎MRI和脑脊液检测。神经传导检查结果显示患者上下肢的感觉缺失符合脱髓鞘特点。（图1，表1）。

Table1demonstratesmarkedlyprolongedmotordistallatencies(DL)(DLinthearms16–27ms[normal,4.2ms],DLinthelegs14–26ms[normal,5.7ms]).Markedprolonged







































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