Kawamura H, Shimojo S, Nonaka I, Abe M, Tadokoro M
Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki, Japan.
Rinsho Shinkeigaku. 2000 Mar;40(3):259-62.
A 29-year-old male who had a past history of mild ECG abnormality of arrhythmia at the age of 14 years, was referred to our hospital because of elevated serum creatine kinase (CK) level. He had never been aware of muscular weakness nor cardiac symptoms. Neurological examination revealed normal muscle strength of all extremities except marked back muscle weakness. He had normal intelligence. On laboratory examination, serum AST, ALT, LDH, aldolase, CK and myoglobin levels were elevated. Both lactate and pyruvate levels were normally responded after an ischemic exercises test. Acid maltase activity was normal in white blood cells. A muscle biopsy obtained from rectus femoris muscle revealed vacuolar myopathy with mildly increased PAS positive material. On electron microscopy, there were autophagic vacuoles scavenging glycogen particles and cytoplasmic debris, and sarcolemmal indentation, compatible with the findings of lysosomal glycogen storage disease with normal acid maltase. This patient had unusual clinical features of absent mental retardation and no apparent cardiomyopathy. Accordingly, mental retardation is probably not necessary to see later onset of cardiac muscle involvement.
一名29岁男性，14岁时曾有轻度心律失常的心电图异常病史，因血清肌酸激酶（CK）水平升高被转诊至我院。他从未意识到有肌肉无力或心脏症状。神经系统检查显示，除背部肌肉明显无力外，四肢肌力正常。他智力正常。实验室检查发现，血清谷草转氨酶（AST）、谷丙转氨酶（ALT）、乳酸脱氢酶（LDH）、醛缩酶、CK和肌红蛋白水平升高。缺血运动试验后，乳酸和丙酮酸水平反应正常。白细胞中的酸性麦芽糖酶活性正常。从股直肌获取的肌肉活检显示为空泡性肌病，PAS阳性物质轻度增加。电子显微镜检查发现有自噬泡清除糖原颗粒和细胞质碎片，以及肌膜凹陷，符合酸性麦芽糖酶正常的溶酶体糖原贮积病的表现。该患者具有智力正常且无明显心肌病的不寻常临床特征。因此，智力正常可能并非后期出现心肌受累的必要条件。
