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家族性先天性中心核肌病是一种先天性少见肌病,国内极少有报告。现将所见一家族2例报告如下: 例1,男11岁,出生时足月顺产,2岁会走路,易跌倒,跑步不如正常儿童快,渐发现上肢也力弱,提重物困难,现11岁蹲下站起需扶膝,登楼梯及上坡困难。查体:身高1.45米,智力正常,行走鸭步,高卧氏征阳性,足跟足尖行走不能,四肢近端肌力Ⅲ级,远端Ⅳ级,腱反射对称性消失,病理反射(一),无明显肌萎缩及假性肥大,血CPK162.5u/L(正常19—107),LDH178u/L(正常109—245)。
Familial congenital centromere disease is a congenital rare myopathy, very few domestic reports. Now we see a family of 2 cases are reported as follows: Example 1, male 11 years old, full-term birth at birth, walking 2 years old, easy to fall, running less fast than normal children, gradually found that the upper limbs are weak, lifting heavy problems, Now 11-year-old squat to stand up knee, climbing stairs and uphill difficulties. Physical examination: height 1.45 meters, normal intelligence, walking duck step, high lying Dow positive, heel tiptoe walking can not, proximal limb muscle III grade, distal Ⅳ grade, tendon reflex symmetry disappears, pathological reflex (a ), No obvious muscle atrophy and pseudo-hypertrophy, blood CPK162.5u / L (normal 19-107), LDH178u / L (normal 109-245).