Matsuo T, Tashiro T, Ikeda T, Tsujihata M, Shimomura C
Acta Pathol Jpn. 1982 Sep;32(5):907-16. doi: 10.1111/j.1440-1827.1982.tb03205.x.
Nemaline myopathy was first reported in 1963 and has been considered to be a congenital, non-progressive myopathy with weakness since birth. However, severe forms leading to death in infancy have been rarely reported. Recently we necropsied a female infant with fatal neonatal nemaline myopathy who required mechanical ventilatory support immediately following delivery. She had suffered from recurrent pneumonia and died at five months of age. Light and electron microscopic studies on both muscle biopsy and autopsy specimens were diagnostic of nemaline myopathy. Characteristic rod-like structures were demonstrated within skeletal muscles, and accumulations of thin filaments were seen in numerous muscle fibers. The origin of these structures in the Z-disks and other morphologic features were the same as those of the rods occurring in congenital cases of rod myopathy. No involvement was observed in the cardiac muscle or in the smooth muscle of the gastrointestinal tract. It is likely that involvement of the skeletal muscles of the pharyngeal areas, intercostal spaces, and diaphragm might have contributed to the difficulty in swallowing and respiratory distress.
杆状体肌病于1963年首次被报道，自那时起一直被认为是一种先天性、非进行性的肌病，自出生起就伴有肌无力症状。然而，导致婴儿期死亡的严重病例却鲜有报道。最近，我们对一名患有致命性新生儿杆状体肌病的女婴进行了尸检，该女婴在出生后立即需要机械通气支持。她曾反复患肺炎，并在五个月龄时死亡。对肌肉活检和尸检标本进行的光镜和电镜研究均诊断为杆状体肌病。在骨骼肌内可见特征性的杆状结构，并且在许多肌纤维中可见细肌丝的聚集。这些结构在Z线处的起源以及其他形态学特征与先天性杆状肌病病例中出现的杆状体相同。未观察到心肌或胃肠道平滑肌受累。咽区、肋间间隙和膈肌的骨骼肌受累可能是导致吞咽困难和呼吸窘迫的原因。
