Roullet E, Fardeau M, Collin H, Marteau R
Rev Neurol (Paris). 1985;141(10):655-62.
Two male patients, aged 46 and 48, presented with muscle pain on exercise, generalized or limited to the upper extremities. Physical signs were limited to mild muscle wasting in one case. There was no myoglobinuria. Electromyography was normal in one case, and showed some polyphasic units in the other. An ischaemic lactate test was normal in the one case in which it was performed. Serum creatine kinase activity was normal or only mildly elevated. Histochemical and ultrastructural study of muscle showed tubular aggregates in type II fibers in both cases, and otherwise gave normal results. Symptoms were unchanged with a follow-up of 2 and 16 years, respectively. Tubular aggregates are found in a number of unrelated clinical and experimental conditions, which are reviewed. In these cases and in 3 similar patients, previously reported, tubular aggregates seem to be the hallmark of hitherto unrecognized metabolic disorders.
两名男性患者，年龄分别为46岁和48岁，表现为运动时肌肉疼痛，疼痛范围广泛或局限于上肢。体征方面，其中一例仅有轻度肌肉萎缩。均无肌红蛋白尿。一例患者的肌电图正常，另一例显示有一些多相波单位。进行了缺血性乳酸试验的那例患者结果正常。血清肌酸激酶活性正常或仅轻度升高。肌肉的组织化学和超微结构研究显示，两例患者的II型纤维中均有管状聚集物，其他方面结果正常。分别随访2年和16年，症状无变化。管状聚集物见于多种不相关的临床和实验情况，本文对此进行了综述。在这些病例以及之前报道的3例类似患者中，管状聚集物似乎是迄今未被认识的代谢紊乱的标志。
