Skoglund R R
Neurology. 1979 May;29(5):717-20. doi: 10.1212/wnl.29.5.717.
A 11-year-old boy of short stature had recurrent right temporal pounding headaches of 7 months' duration, and progressive visual loss for 3 days. There was a left hemianopia, alexia without agraphia, and diffuse muscle weakness. Investigation established the presence of a mitochondrial myopathy with pyruvate and lactic acidemia and increased serum content of sarcoplasmic enzymes. On treatment with prednisone, the patient's strength and reading skill improved, symptoms resolved, and muscle enzymes returned to normal. Three attempts to reduce steroids resulted in accentuation of symptoms, seizures, weakness, regression of reading skills, and elevation of serum enzymes. The alexia was also reversible.
一名11岁身材矮小的男孩反复出现右侧颞部搏动性头痛达7个月,且视力进行性下降3天。存在左侧偏盲、失读不伴失写以及弥漫性肌肉无力。检查发现存在线粒体肌病,伴有丙酮酸血症和乳酸血症,血清肌浆酶含量升高。使用泼尼松治疗后,患者的肌力和阅读技能有所改善,症状缓解,肌肉酶恢复正常。三次尝试减少类固醇药物用量均导致症状加重、癫痫发作、肌无力、阅读技能退步以及血清酶升高。失读症状也可逆转。