Yamanouchi H, Nonaka I, Kaga M, Hirayama Y, Kurokawa T
Division of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo, Japan.
Brain Dev. 1992 Mar;14(2):118-21. doi: 10.1016/s0387-7604(12)80099-4.
A two-year-seven-month-old girl with pes equinovarus congenita, muscle hypotonia and weakness limited to the lower extremities is presented. Upon admission to our hospital, she could stand with support but could not walk alone. Serum creatine kinase level was normal and the electromyogram was nondiagnostic. The muscle CT disclosed an almost total absence of bilateral vastus lateralis and medialis, rectus femoris and gastrocnemius muscles. The biopsied vastus lateralis muscle was almost completely replaced by fat tissue, and a small amount of muscle tissue showed uniform type 1 fiber and an aggregate of atrophic fibers in one fascicle. Because of an absence of progressive muscle weakness and neurogenic EMG findings, the authors conclude that the muscle pathology was due to the congenital anomalous condition of probable abnormal innervation to developing muscles.
本文报告了一名患有先天性马蹄内翻足、肌张力减退且仅下肢无力的两岁七个月女童。入院时，她在支撑下可以站立，但无法独立行走。血清肌酸激酶水平正常，肌电图检查未得出诊断结果。肌肉CT显示双侧股外侧肌、股内侧肌、股直肌和腓肠肌几乎完全缺失。活检的股外侧肌几乎完全被脂肪组织取代，少量肌肉组织显示出均匀的1型纤维以及一个肌束内萎缩纤维的聚集。由于没有进行性肌无力和神经源性肌电图表现，作者得出结论，肌肉病理学改变是由于发育中的肌肉可能存在异常神经支配的先天性异常情况所致。
