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作者报道2例误诊为遗传性张力障碍的多巴反应性张力障碍(DRD)患儿。兄6岁,弟3岁,因步态及姿势异常就诊。兄6个月时,坐位时后倒,1岁时仍不能独坐,步态为足趾着地而髋、膝关节屈曲,抬头时歪向右侧,腰椎前凸,髋、膝屈曲20°,足跟离地,手指舞蹈动作,行走时无手臂摆动,奔跑时双腿呈环形,髋关节屈曲<110°,直腿抬高≤45°,踝关节背屈<90°,头部向右转仅30°,左转45°,膝、踝反射活跃,踝阵挛,跖反射呈屈曲反应。弟的病史及体征与兄类似,程度稍轻。血电解质、肝、肾功能、血细胞计数正常。CSF(一)。兄肌酸激酶70IU,弟120IU(正常<
The authors report 2 children with Dopa-reactive dystonia (DRD) misdiagnosed as hereditary dystonia. Brother 6 years old, younger brother 3 years old, due to abnormal gait and posture treatment. Brother 6 months, when sitting down, 1-year-old still can not sit alone, gait for the toe to the hip and knee flexion, crampons rise to the right, lumbar lordosis, hip, knee flexion 20 °, Heel off, finger dance moves, no arm swing when walking, legs running ring, hip flexion <110 °, straight leg raising ≤ 45 °, ankle dorsiflexion <90 °, head to the right Only 30 °, turn left 45 °, knee, ankle reflex active, ankle clonus, plantar reflex flexion response. Brother’s history and signs similar to brother, a little light. Blood electrolytes, liver, kidney function, normal blood count. CSF (a). Kit creatine kinase 70IU, brother 120IU (normal <