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1临床资料:患者,女,60岁,因“构音障碍、双上肢抽搐2年”于2013年1月来我院就诊。患者自诉无明显诱因突然发生阵发性说话费力,音拖长,不自然中断,音量、音调急剧变化,鼻音过重,伴阵发性双上肢抽搐,发作时腕关节及掌指关节屈曲、指间关节伸直。拇指伸直,内收,斜向横贯于掌。无口角歪斜,口吐泡沫。上述双上肢抽搐症状每月发作2~3次。既往无颈部手术史、无家族遗传病史。体格检查:BP 135/80mmHg。神志清楚,精神差,表情木讷,反应迟钝,吐词不清,心肺腹查体无异常,四肢肌张力及肌力正常。辅助检查:颅脑CT:顶叶钙化灶、小脑双侧基底节、齿状核分布具有对称性,CT值超过100HU,见下图。血电解质:磷(P)3.75mmol/L(正常值范围1.45~2.10mmol/L)、钙(Ca)1.5mmol/L(正常值范围2.10~2.70mmol/L)、甲状旁腺激素(Parathyroid hormone,PTH)37.718pg/ml(正常值范围12~72g/L)
1 clinical data: patients, female, 60 years old, due to “dysarthria, upper limb twitch 2 years ” in January 2013 to our hospital. Patient self-indictment no obvious incentive for a sudden paroxysmal speaking, laborious, prolonged tingling, unnatural disruption, rapid changes in volume, tone, nasal excess, with paroxysmal double upper extremity convulsions, epiphysis and metacarpophalangeal joint flexion, refers to Joints straight. Thumb straight, adduction, oblique across the palm. No gully skew, mouth vomit bubble. The above symptoms of upper extremity convulsions 2 to 3 times per month. No past history of neck surgery, no family history of genetic disease. Physical examination: BP 135 / 80mmHg. Consciousness, poor spirit, stiff expression, unresponsive, unclear speech, no abnormal cardiopulmonary abdominal examination, limb muscle tension and muscle strength is normal. Auxiliary examination: brain CT: parietal calcification, bilateral basal ganglia, dentate nucleus distribution symmetry, CT value of more than 100HU, see below. Blood electrolytes: P (P) 3.75mmol / L (normal range 1.45 ~ 2.10mmol / L), calcium (Ca 1.5mmol / L normal range 2.10 ~ 2.70mmol / L), parathyroid hormone , PTH) 37.718pg / ml (normal range 12 ~ 72g / L)