VanDyke D H, Griggs R C, Markesbery W, Dimauro S
Neurology. 1975 Feb;25(2):154-9. doi: 10.1212/wnl.25.2.154.
An eight-year-old boy with slowly progressive muscle weakness was found to have Oil red O positive vacuoles in predominanty type i muscle fibers. Subsequent studies demonstrated markedly reduced skeletal muscle carnitine (0.24 mumoles per gram; normal 1.64 to 3.34). Serum carnitine was normal. Although both parents were clinically normal, muscle carnitine levels were low in both (mother 0.60; father 0.90 mumoles). There was no clinical evidence of cardiac disease but the patient had ventricular hypertrophy by electrocardiography, vectorcardiography, and echocardiography. Treatment with prednisone resulted in clinical improvement but no change in muscle histology. Our studies suggest that the carnitine deficiency of muscle in this case may be due to impaired carnitine entry into muscle and that this form of disease can be inherited as an autosomal recessive disorder.
一名8岁男孩，肌肉无力呈缓慢进展，被发现主要在I型肌纤维中有油红O阳性空泡。后续研究显示骨骼肌肉碱显著降低（0.24微摩尔/克；正常范围为1.64至3.34）。血清肉碱水平正常。尽管父母双方临床均正常，但他们的肌肉肉碱水平均较低（母亲0.60；父亲0.90微摩尔）。没有心脏病的临床证据，但通过心电图、向量心电图和超声心动图检查发现该患者有室壁肥厚。泼尼松治疗后临床症状改善，但肌肉组织学无变化。我们的研究表明，该病例中肌肉肉碱缺乏可能是由于肉碱进入肌肉受损，且这种疾病形式可作为常染色体隐性疾病遗传。
