Wada H, Nishio H, Kugo M, Waku S, Ikeda K, Takada S, Murakami R, Itoh H, Matsuo M, Nakamura H
Department of Pediatrics, Kobe University School of Medicine, Japan.
Brain Dev. 1996 Mar-Apr;18(2):135-8. doi: 10.1016/0387-7604(95)00131-x.
A Japanese infant with a severe neonatal form of nemaline myopathy showed features of muscle immaturity as well as rods in the biopsied quadriceps femoris muscle, and involvement of diaphragm was first confirmed at autopsy. The biopsied muscle showed numerous rods in 80% of muscle fibers, and an increased number of type 2C fibers (23.2%). Electron microscopic findings were characterized by the presence of many small, immature round fibers with central nuclei and sparse myofibrils, and an increased number of satellite cells in close association with the small muscle fibers, as well as numerous rod structures. These microscopic and electron microscopic findings are interpreted as immature muscle fibers. Maturational delay or arrest implies deprivation of a development promoting factor such as a neuronal signal. Severe involvement with numerous rods was demonstrated in both diaphragm and intercostal muscles at the time of the postmortem examination, compatible with the patient's respiratory failure.
一名患有严重新生儿型杆状体肌病的日本婴儿，其活检的股四头肌显示出肌肉不成熟的特征以及杆状体，尸检首次证实膈肌受累。活检肌肉中80%的肌纤维有大量杆状体，2C型纤维数量增加（23.2%）。电子显微镜检查结果的特征是存在许多小的、不成熟的圆形纤维，有中央核且肌原纤维稀疏，与小肌纤维紧密相关的卫星细胞数量增加，以及大量杆状结构。这些显微镜和电子显微镜检查结果被解释为不成熟的肌纤维。成熟延迟或停滞意味着缺乏如神经信号等促进发育的因素。尸检时在膈肌和肋间肌中均发现严重受累且有大量杆状体，这与患者的呼吸衰竭相符。
