Buruma O J, Schipperheyn J J, Bots G T
Acta Neurol Scand. 1981 Jul;64(1):12-21. doi: 10.1111/j.1600-0404.1981.tb04381.x.
The case history, skeletal muscle and heart muscle biopsy findings from an affected member of a family suffering from hypokalaemic periodic paralysis associated with permanent muscular weakness are reported. The patient, a female aged 35 years, while treated with 750 mg and later 1000 mg of acetazolamide daily, developed typical exercise angina pectoris. The ECG during exercise showed ST-segment depression. A coronary angiography was performed because coronary artery disease was suspected. To exclude cardiac muscle disease a biopsy of the left ventricular wall was taken. The angiography was normal. Ultrastructural analysis of the biopsy specimen showed an unusual amount of intermyofibrillary glycogen resembling, although far less abundant, the increase of glycogen found in the skeletal muscle biopsy specimen obtained from the same patient. The possible implications of these findings are discussed with reference to the normal echocardiographic findings in the family.
报告了一名患有低钾性周期性麻痹并伴有永久性肌无力的家族中一名患病成员的病史、骨骼肌和心肌活检结果。患者为一名35岁女性，在每日服用750毫克、后增至1000毫克乙酰唑胺治疗期间，出现了典型的运动性心绞痛。运动期间的心电图显示ST段压低。由于怀疑患有冠状动脉疾病，进行了冠状动脉造影。为排除心肌疾病，取了左心室壁活检。血管造影正常。活检标本的超微结构分析显示，肌原纤维间糖原数量异常，虽然远不如在同一名患者的骨骼肌活检标本中发现的糖原增加那么丰富，但与之相似。结合该家族正常的超声心动图结果，讨论了这些发现的可能意义。
