Weder B, Ketz E
Schweiz Med Wochenschr. 1977 Nov 12;107(45):1620-6.
Report on clinical and electrophysiological findings in four members of a family with acute intermittent porphyria in the remission period. One patient had suffered from repeated epileptic seizures of the grand-mal type since the age of 24 years. Generalized and multifocal epileptic potentials were found in her EEG. Two other members of the family, a man and a woman, were found electromyographically and neurographically to have a florid neuropathy with damage to the axon and the myelin sheath. Only the female patient showed manifest clinical signs of the polyneuropathy. The 4th member, who years previously had had abdominal colics and suspect biochemical signs of acute intermettent porphyria, was not striking either neurologically or in electromyographic and neurographic polyneuropathy screening at the time of the examination. Epileptic seizures and the symptoms of the polyneuropathy had a close connection with the menstrual cycle (two cases). Before and at the beginning of the menstruation a deterioration of the disease was observed. Problems of antiepileptic therapy in acute intermittent porphyria are discussed.
急性间歇性卟啉病缓解期一个家族中四名成员的临床及电生理检查结果报告。一名患者自24岁起就反复出现癫痫大发作。在其脑电图中发现了广泛性和多灶性癫痫电位。该家族的另外两名成员,一名男性和一名女性,经肌电图和神经电图检查发现患有严重的神经病,轴突和髓鞘均有损伤。只有女性患者表现出明显的多发性神经病临床症状。第四名成员几年前曾有腹部绞痛且有急性间歇性卟啉病可疑的生化指标,在检查时其神经学表现以及肌电图和神经电图多发性神经病筛查结果均无明显异常。癫痫发作和多发性神经病症状与月经周期密切相关(两例)。在月经前及月经开始时观察到病情恶化。文中还讨论了急性间歇性卟啉病的抗癫痫治疗问题。