Sarnat H B, Roth S I, Jimenez J F
Can J Neurol Sci. 1981 Nov;8(4):313-20. doi: 10.1017/s0317167100043444.
The natural course of the pathologic features in striated muscle was studied in a full-term infant with myotubular myopathy. At 5 days of age a muscle biopsy revealed that more than 90 percent of muscle fibers fulfilled histologic, histochemical and electron microscopic criteria of fetal myotubes. The infant died unexpectedly at 9 months of age from spontaneous rupture of a multifocal cavernous hemangioma of the liver. Postmortem examination revealed that progressive maturation of the fetal muscle had not occurred postnatally, and more than 90 percent of myofibers were still apparent myotubes. This maturational arrest was generalized to all striated muscles. The only changes detected since the neonatal period were hypertrophy of the small population of large fibers, but with minor cytoarchitectural alterations, and loss of the incomplete histochemical differentiation with ATPase stains or dedifferentiation not attributed to postmortem diffusion. Involvement of the gubernaculum testis accounted for the undescended testicles. The brain and spinal cord appeared normal. Evidence of degenerating and regenerating axons in the sciatic nerve suggested that the etiology of this maturational arrest of fetal muscle may be neurogenic.
在一名患有肌管性肌病的足月儿中研究了横纹肌病理特征的自然病程。出生5天时的肌肉活检显示，超过90%的肌纤维符合胎儿肌管的组织学、组织化学和电子显微镜标准。该婴儿在9个月时意外死于肝脏多灶性海绵状血管瘤的自发性破裂。尸检显示，胎儿肌肉在出生后并未发生渐进性成熟，超过90%的肌纤维仍是明显的肌管。这种成熟停滞累及所有横纹肌。自新生儿期以来检测到的唯一变化是少量大纤维的肥大，但细胞结构改变轻微，并且ATP酶染色显示不完全组织化学分化消失或去分化，并非归因于死后扩散。睾丸引带受累导致睾丸未降。脑和脊髓看起来正常。坐骨神经中轴突退变和再生的证据表明，胎儿肌肉这种成熟停滞的病因可能是神经源性的。
