fahr病临床的分析

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1、华中科技大学硕士学位论文Fahr病7例临床分析硕士研究生：张莉导师：姜亚平教授中文摘要目的分析Fahr病（特发性家族性脑血管亚铁钙沉着症）的发病机制、临床特点、诊断和治疗方法。方法对我院收治的7例Fahr病患者的临床资料进行回顾性分析。分析总结他们的病因、临床表现、家族史、辅助检查结果、诊断、鉴别诊断、治疗及预后情况。结果Fahr病是一种罕见的神经系统疾病，起病隐匿，进行性发展。临床症状多样，主要症状为智力障碍、进行性精神发育迟滞、痴呆、发音困难、严重发育障碍、癫痫，锥体外系症状（强直、震颤、面具脸、肌张力障

2、碍、舞蹈病、扭转痉挛、手足徐动等），锥体束损害体征（肢体无力、肌张力增高、腱反射亢进等），共济失调，构音障碍等；颅脑CT检查是诊断Fahr病的重要手段，可见颅内广泛钙化灶，本组7例患者中均有双侧基底节对称性的钙化灶，其中伴有小脑钙化4例，丘脑钙化1例，皮层钙化3例，脑干钙化3例；7例患者血清钙、磷、镁、FT3、FT4、TSH、PTH均正常，血清寄生虫全套均示阴性；7例患者均曾被误诊；本病无特殊治疗，主要是对症治疗及营养脑细胞治疗。结论Fahr病的CT特征是双侧基底节、尾状核、豆状核、丘脑、脑干及小脑齿状核对称

3、性钙化，而血清中钙、磷、镁、促甲状腺激素及甲状旁腺激素水平正常则是Fahr病与其他疾病鉴别的关键指标。关键词Fahr病；临床分析；基底节；钙化；诊断；鉴别诊断；CT1华中科技大学硕士学位论文ClinicalanalysisofFahrdisease:areportof7casesCandidate:ZhangLiSupervisor:Prof.JiangYapingAbstractObjective:Toanalyzethenosogenesis,clinicalcharacteristics,diagnos

4、isandtreatmentofFahrdiseaseMethods:Theclinicaldataof7caseswithFahrdiseasewereanalyzed,includingthepathogeny,clinicalmanifestations,familyhistory,imagingcharacteristic,laboratoryinvestigation,diagnosis,differentialdiagnosis,treatmentmethodsandoutcome.Results

5、:Fahrdiseaseisarareandslowlyprogressivedisordermanifestedbyamentia,progressivementalretardation,dementia,dysphonia,severeeccyliosis,epilepsy,ectrapyramidaldisorders(rigidity,tremor,maskface,dysmyotonia,chorea,torsionspasm,athetosis),pyramidsign(weakness,hye

6、rmyotonia,tendonhyperreflexia),ataxia,anarthria.CTscanshowsencephalicgeneralcalcificationsandCTscanplaysanimportantroleintherightdiagnosis.All7Fahrdiseasecaseshadbilateralandsymmetriccalcificationsofthebasalganglia,4of7hadcalcificationsofthecerebellum,1of7h

7、adcalcificationsofthethalamus,3of7hadcalcificationsofthecortex,3of7hadcalcificationsofthebrainstem,.All7Fahrdiseasecaseshadnormallevelofserumcalcium,2华中科技大学硕士学位论文phosphorus,magnesium,FT3,FT4,thyrotropin,parathormoneandofserumparasticexaminination.All7Fahrdi

8、seasecaseshadmisdiagnosis.Thereisnospecialtreatmentexpectforsymptomatictreatment.Conclusion：Thebilateralandsymmetriccalcificationsofthebasalganglia,includingthelentiformnucleus,caudatenucleusandthalami