肝豆状核变性合并癫痫的表现和中西医结合治疗的临床研究

目的探讨155例肝豆状核变性(hepatolenticular degeneration，HLD)合并癫痫发作患者的临床表现和中西医结合治疗的效果。方法观察HLD合并癫痫发作临床表现及其与颅脑CT或(及)MRI异常所见的关系；采用二巯基丙磺酸钠20mg／kg·d静脉滴注和中药肝豆汤加味口服综合驱铜8～10个疗程．同时应用抗癫痫药，对临床疗效、尿铜及血清铜等结果进行比较。结果155例HLD中，合并部分性癫痫发作96例、全身性发作59例；72例行颅脑CT或(及)MRI检查者均有异常(100％)，除了HDL常见的基底节区对称性损害灶(65例次，90．3％)及程度不等的脑萎缩(61例次，84．7％)外，尚观察到54例(74％)有大脑白质为主累及皮质的大片状损害灶，病灶多为双侧对称性或累及相邻的两个脑叶，其发生频率依次为额叶、顶叶、颞叶及扣带回，无上述病灶的患者均见明显的脑萎缩。29例(40．2％)有脑电图异常，主要表现为中～高电位e波或(及)短阵棘-慢或尖-慢综合波发放。患者治疗前尿铜为(4．49±1．93)／μmol／24h，治疗后尿铜为(34．50±21．60)／μmol／24h，较治疗前显著增高(P<0．01)，血清铜亦有所下降(P<0．01)，患者在锥体外系等症状逐渐改善的同时，癫痫发作亦得到完全控制。结论HLD合并癫痫最常见的发作类型为部分性发作，全身性发作亦较常见；大脑损害灶和明显的脑萎缩可能为HLD并发癫痫发作的主要原因；中西医结合综合驱铜和抗癫痫药治疗具有较好的临床疗效。

Clinical Study on Manifestation of Hepatolenticular Degeneration Complicated with Epilepsy and Therapeutic Effect of Integrative Chinese and Western Medicine Treatment

OBJECTIVE: To observe the clinical manifestation of 155 patients with hepatolenticular degeneration (HLD) complicated with epilepsy and the therapeutic effect of integrative Chinese and Western medicine treatment on them. METHODS: Clinical manifestation of patients and its relationship with abnormalities in cranial CT and/or MRI were observed. Patients were treated by combined treatment of copper repellent with sodium dimercaptosulfonate 20 mg/kg per day by intravenous dripping, and modified Gandou Decoction (GDD) by oral intake and antiepileptics as well, after treatment for 8-10 courses, the clinical effect, copper levels in urine and serum were compared between groups. RESULTS: In the 155 HLD patients, 96 were complicated with petit mal and 59 with grand mal. In the CT and/or MRI conducted in 72 patients, all showed abnormal images, besides such frequently met images as bilateral symmetrical basal ganglia focal lesion in 65 case-episode (90.3%) and brain atrophy of various degrees in 61 case-episode (84.7%), the massive lesions in cerebral white matter as principal, with the cortex involved, were also found in 54 patients (74%), which were mostly bilateral and symmetric or located in 2 adjecent lobes of brain, the sites of damage, in sequence of occurrence, were frontal lobe, parietal lobe, temporal lobe and callosal gyrus. Brain atrophy was found in all the remained patients without above-mentioned lesions. Abnormal EEG was shown in 29 patients (40.2%), which mainly manifested as theta wave of moderate to high potential and/or short paroxysmal spike-slow or sharp-slow complex wave evoked. The urinary copper level in patients after treatment was 34.5 +/- 21.6 micromol/24 hrs, significantly higher than that before treatment, 4.49 +/- 1.93 micromol/24 hrs (P < 0.01). And the serum copper level in patients also lowered significantly (P< 0.01). Epileptic seizure was controlled completely along with the gradually improving of extrapyramidal symptoms. CONCLUSION: Partial seizure was the most common type of seizure of HLD patient complicated with epilepsy, the next is systemic seizure. Cerebral damage lesion and obvious brain atrophy could be the main etiological factors of HLD complicated with epilepsy, combined copper repellent therapy of integrative Chinese and Western medicine, and antiepileptics produced good clinical effect on the patients.