Danon M J, Giometti C S, Manaligod J R, Swisher C
Department of Neurology, New York Medical College, Valhalla 10595, USA.
Muscle Nerve. 1997 May;20(5):561-9. doi: 10.1002/(sici)1097-4598(199705)20:5<561::aid-mus4>3.0.co;2-7.
Muscle biopsies at age 7 months in a set of dizygotic male twins born floppy showed typical features of congenital fiber-type disproportion (CFTD). One of the twins died at age 1 year due to respiratory complications. The second one subsequently developed facial diplegia and external ophthalmoplegia. He never walked, remained wheelchair bound, and required continuous ventilatory support. He underwent repeat biopsies at ages 2 and 4, which showed many atrophic type 1 muscle fibers containing central nuclei and severe type 2 fiber deficiency compatible with centronuclear myopathy (CNM). Two-dimensional gel electrophoresis of muscle showed decreases of type II myosin light chains 2 and 3, suggestive of histochemical type I fiber deficiency. The progressive nature of morphological changes in one of our patients cannot be explained by maturational arrest. Repeat biopsies in cases of CFTD with rapid clinical deterioration may very well show CNM.
一组出生时肌张力低下的异卵双胞胎男性在7个月大时进行的肌肉活检显示出先天性纤维类型不均衡（CFTD）的典型特征。其中一个双胞胎在1岁时因呼吸并发症死亡。另一个随后出现了面瘫和外眼肌麻痹。他从未学会走路，一直依靠轮椅，并需要持续的通气支持。他在2岁和4岁时接受了重复活检，结果显示许多萎缩的1型肌纤维含有中央核，并且严重缺乏2型纤维，符合中央核性肌病（CNM）。肌肉的二维凝胶电泳显示II型肌球蛋白轻链2和3减少，提示组织化学1型纤维缺乏。我们其中一位患者形态学变化的进行性本质无法用成熟停滞来解释。在临床快速恶化的CFTD病例中进行重复活检很可能会显示出CNM。
