摘要
目的探讨亨廷顿病的临床特点及神经影像学表现。方法收集2011—2016年就诊亨廷顿病患者6例,绘制完整的家谱图并记录详细的临床资料,对每位患者的临床特点及神经影像学特征进行分析。结果收治6例亨廷顿病患者,其中4例患者有阳性家族史,2例家族史不确定。早期临床表现不典型,仅表现为智力低下、癫痫,导致误诊,中晚期患者有运动障碍、智力降低及情感障碍等典型三联征。神经影像学检查发现所有患者均有尾状核萎缩,额角扩大,4例伴有皮层脑萎缩。结论中晚期亨廷顿病患者临床症状较典型,早期症状多样易误诊,结合精神科检查和神经影像学表现对诊断有重要价值,基因检测是该疾病重要诊断方式。
Objective To explore the clinical characteristics and neuroimaging manifestation of Huntington disease. Methods Having collected six patients with Huntington disease diagnosed from 2011 to 2016 and mapping their genealogies and recording their detailed clinical data to analysis the clinical characteristics and neuroimaging features of each patient. Results Four of six patients Huntington disease had positive family history while two of them had unknown family history. The clinical manifestations were mental retardation and epilepsy in the early stage which led to misdiagnose. The typical symptoms in patients with advanced Huntington disease were dyskinesia, mental decline and affective disorder. Neuroimaging showed that caudate nucleus atrophy and lateral ventricle enlargement can be seen in all the patients and four patients＇ cortical brains were atrophied. Conclusion The clinical symptoms in the patients with advanced Huntington disease are typical while the varied symptoms in the early stage are inclined to misdiagnose. Combined with the important values of psychiatric examination and neuroimaging manifestation to the diagnosis, the genetic test is a significant diagnosis for Huntington＇s disease.
出处
《实用医学影像杂志》
2017年第4期334-336,共3页
Journal of Practical Medical Imaging
关键词
亨廷顿病
尾状核
脑萎缩
体层摄影术
X线计算机
Huntington disease
Caudate nucleus
Cerebral atrophy
Tomography, X-ray computer
