Jong Y J, Shishikura K, Aoyama M, Kitahara H, Horita H, Osawa M, Suzuki H, Hirayama Y, Nakada E, Saito K
Brain Dev. 1987;9(1):61-4. doi: 10.1016/s0387-7604(87)80013-x.
A 28-month-old male with generalized hypotonia and muscle weakness, a myopathic face, skeletal dysmorphism and delayed motor milestones from birth is reported. He gradually developed the ability of sitting and rolling over, but could not stand without support until 28 months. There was no intellectual impairment or seizures. Deep tendon reflexes were absent. The serum CK value, peripheral nerve conduction velocity and EMG were within normal limits. A muscle biopsy specimen showed mild variation in fiber size, and an increased number of type 2C fibers on histochemical examination, but no apparent abnormalities on electron microscopy. The baby was tentatively diagnosed as having minimal change myopathy or nonspecific congenital myopathy which is thought to be one of the congenital nonprogressive myopathies.
报告了一名28个月大的男性，自出生起就有全身肌张力减退和肌肉无力、肌病面容、骨骼畸形以及运动发育迟缓。他逐渐发展出坐和翻身的能力，但直到28个月时仍无法在无支撑的情况下站立。无智力障碍或癫痫发作。深部腱反射消失。血清肌酸激酶值、周围神经传导速度和肌电图均在正常范围内。肌肉活检标本显示纤维大小有轻度差异，组织化学检查显示2C型纤维数量增加，但电子显微镜检查无明显异常。该婴儿初步诊断为微小病变性肌病或非特异性先天性肌病，被认为是先天性非进行性肌病之一。
