A 25-year-old women was admitted to the department of Neurology in Affiliated 2nd Hospital of Hainan Medical University due to recurrent syncope for 8 years and return for 2 months. She had multiple episodes of syncope at onset. She presented with the feeling of weakness in both lower limbs, and fatigue in the past year. She experienced pain in the waist and limbs joint in recent three months. Physical examination showed joint hyperactivity in metacarpophalangeal joints of both upper limbs, increased skin elasticity. Active-standing transcranial Doppler (TCD) test showed that the average heart rate (HR) and the average middle cerebral artery (MCA) blood flow velocity in the supine position were 79 beats/min and 62 cm/s, respectively; while the average HR and the average MCA blood flow velocity in the standing position were 126 beats/min, 47 cm/s. Meanwhile,the blood pressure was normal during the test of supine-to-standing TCD. Genetic testing indicated LDB3 transgenation. The patient was diagnosed as postural tachycardia syndrome (joint-hypermobility-related), Ehlers-Danlos syndrome, and relieved by fluid infusion and rehabilitation therapy.
患者女，25岁，因反复晕厥8年，再发2个月就诊于海南医学院第二附属医院神经内科。患者以反复晕厥起病，近1年感双下肢乏力、易疲劳，近3个月感腰部及四肢关节疼痛，双上肢掌指关节活动度增大，皮肤弹性增加。卧立位经颅多普勒超声（TCD）示卧位平均心率79 次/min；立位平均心率126 次/min；卧立位血压正常；大脑中动脉卧位平均脑血流速度62 cm/s；立位平均脑血流速度47 cm/s。基因检测提示LDB3基因突变。最终诊断：体位性心动过速综合征（关节过度活动型），Ehlers-Danlos综合征，予以补液、康复治疗后好转。.