Yokochi K, Tanaka T, Nonaka I
Brain Dev. 1985;7(5):492-5. doi: 10.1016/s0387-7604(85)80115-7.
A girl with congenital muscular dystrophy with severe scoliosis from birth was presented. No positive family history was obtainable. She developed muscle hypotonia and weakness, and feeding difficulty during the neonatal period. Her developmental milestones were delayed; she learned to walk at the age of 2 years when she walked with a "waddling gait" and stood up with Gowers' maneuver. On physical examination at 2 years old, she had mild proximal dominant muscle weakness and atrophy, and severe scoliosis with a Cobb's angle of 74 degrees but no joint contractures in the extremities. Creatine kinase was slightly elevated. Biopsied muscle showed myopathic changes, including variation in fiber size, moderate fibrous tissue proliferation, some necrotic and regenerating fibers and type 1 fiber predominance, consistent with those seen in chronic progressive muscular dystrophy.
本文报告了一名自出生即患有先天性肌营养不良并伴有严重脊柱侧弯的女孩。未获得阳性家族史。她在新生儿期出现肌张力减退、肌无力及喂养困难。其发育里程碑延迟；2岁时学会走路，行走时呈“鸭步”，需借助Gowers征站立。2岁时体格检查发现，她有轻度近端为主的肌无力和萎缩，伴有Cobb角为74度的严重脊柱侧弯，但四肢无关节挛缩。肌酸激酶轻度升高。肌肉活检显示肌病改变，包括肌纤维大小不一、中度纤维组织增生、一些坏死和再生纤维以及1型纤维占优势，与慢性进行性肌营养不良所见相符。
