Shishikura K, Osawa M, Suzuki H, Hirayama Y, Arai Y, Sumida S, Takahashi R, Fukuyama Y
Department of Pediatrics, Tokyo Women's Medical College, Japan.
Acta Paediatr Jpn. 1994 Apr;36(2):186-93. doi: 10.1111/j.1442-200x.1994.tb03159.x.
The variable clinical courses of three cases of congenital fiber type disproportion (CFTD) over a period of 10 years are presented. All showed improvement in early childhood, but subsequently, varying degrees of deterioration were noted: specifically, marked deterioration in case 2 and decreased muscle strength in case 3. Maximal motor function levels were attained differently among the cases. Histological findings included type 1 fiber hypotrophy and increased internal nuclei in common in all cases. Fine structural changes, such as patchy areas of myofibrillar degeneration, were noted in cases 1 and 2 (second biopsy), and cytoplasmic bodies were seen in case 2 (second biopsy). Myotubes were noted in case 3. The degree of cyto-architectural changes did not correlate with clinical severity. The heterogeneity of CFTD is also discussed.
本文报告了3例先天性纤维类型比例失调（CFTD）患者在10年期间的不同临床病程。所有患者在幼儿期均有改善，但随后出现了不同程度的恶化：具体而言，病例2出现明显恶化，病例3肌肉力量下降。不同病例达到最大运动功能水平的情况不同。组织学检查结果包括所有病例均常见的1型纤维萎缩和内部细胞核增多。病例1和病例2（第二次活检）出现了细微结构变化，如肌原纤维变性的片状区域，病例2（第二次活检）可见胞质体。病例3可见肌管。细胞结构变化的程度与临床严重程度无关。本文还讨论了CFTD的异质性。
