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目的:探讨克-亚综合征(Creutzfeldt-Jakob D isease,CJD)的临床表现,提高对该少见疾病的认识。方法:对我院收治的临床诊断CJD或拟诊为CJD 8例的临床资料及随访情况进行回顾性分析。结果:8例均无手术、应用生长激素和家族遗传史。在病程早期出现乏力、注意力不集中、反应迟钝、记忆力下降7例,出现精神症状3例,伴头痛并眩晕、步态不稳并共济失调各1例。随病情进展,表现为进展性痴呆6例;出现人格改变、腱反射亢进并巴宾斯基征(+)、肌阵挛3例;皮质盲、尿失禁、去皮质强直各2例。本组均行头颅磁共振检查,3例早期出现双侧皮层异常信号。8例全部行脑电图检查,早期均出现广泛慢波,3例晚期出现特征性的周期性三相波。6例行脑脊液检查,其中3例蛋白轻度增高,1例14-3-3蛋白阳性。8例均死亡,曾诊断为病毒性脑炎、抑郁状态、阿尔茨海默病、脱髓鞘脑病、脑梗死等。结论:CJD早期表现极不典型,诊断困难,脑脊液14-3-3蛋白检测及头颅核磁共振检查对CJD的诊断有特异性。
Objective: To investigate the clinical manifestations of Creutzfeldt-Jakob D isease (CJD) and to improve its understanding of this rare disease. Methods: The clinical data and follow-up of 8 clinically diagnosed CJD or suspected CJD admitted to our hospital were analyzed retrospectively. Results: All 8 cases had no operation, and applied growth hormone and family history. Early in the course of fatigue, inattention, unresponsive, memory loss in 7 cases, 3 cases of psychiatric symptoms, with headache and dizziness, gait instability and ataxia in 1 case. With the progress of the disease, the performance of progressive dementia in 6 cases; personality changes, tendon hyperreflexia and Babinski sign (+), myoclonus in 3 cases; cortical blindness, urinary incontinence, corticosteroid in 2 cases. This group were head magnetic resonance imaging, 3 cases of early signs of bilateral cortical abnormalities. All 8 patients underwent EEG examination, with extensive slow wave appeared in early stage and three characteristic periodic phase wave in late stage. 6 cases of cerebrospinal fluid examination, in which 3 cases of mild protein increased, 1 case of 14-3-3 protein positive. All 8 patients died. They had been diagnosed as viral encephalitis, depression, Alzheimer’s disease, demyelinating encephalopathy and cerebral infarction. Conclusions: The early manifestation of CJD is extremely atypical and difficult to diagnose. The detection of 14-3-3 protein in cerebrospinal fluid and cranial magnetic resonance imaging are specific to the diagnosis of CJD.