Murphy M J, Tenser R B
Ann Neurol. 1982 Apr;11(4):372-6. doi: 10.1002/ana.410110409.
Four patients affected with the nevoid basal cell carcinoma syndrome and recurrent seizures are described and the pertinent literature is reviewed. Three of the patients had multiple basal cell carcinomas and cutaneous nevi, dentigerous cysts, and skeletal anomalies characteristic of the syndrome. The seizures had their onset in childhood and were generalized tonic-clonic in three patients and both tonic-clonic and complex partial in the fourth. Focal neurological deficits were found in only one patient. Pneumoencephalography in two patients and head CT scan in a third were negative. Electroencephalography showed focal spike discharges in one patient, bilateral anterior paroxysmal slowing in another, and nonspecific shifting temporal theta transients in the other two cases. Psychometric testing yielded full-scale scores ranging from 39 to 84. In addition to mental retardation, congenital communicating hydrocephalus, and medulloblastoma, seizures should be included among the neurological manifestations of the nevoid basal cell carcinoma syndrome.
本文描述了4例患有痣样基底细胞癌综合征并伴有复发性癫痫的患者,并对相关文献进行了综述。其中3例患者有多个基底细胞癌、皮肤痣、牙源性囊肿以及该综合征特有的骨骼异常。癫痫发作始于儿童期,3例患者为全身性强直阵挛发作,第4例患者既有强直阵挛发作又有复杂部分性发作。仅1例患者有局灶性神经功能缺损。2例患者的气脑造影和第3例患者的头部CT扫描结果均为阴性。脑电图显示,1例患者有局灶性棘波放电,另1例患者双侧前部阵发性慢波,另外2例患者有非特异性颞叶θ波短暂移位。心理测试的全量表得分在39至84分之间。除智力发育迟缓、先天性交通性脑积水和髓母细胞瘤外,癫痫发作也应纳入痣样基底细胞癌综合征的神经学表现之中。