Grasso A, Fiumara A, Biondi R, Nigro F, Nardone G, Bonomo M G, Sicurella L, Scrofani A
Acta Neurol (Napoli). 1989 Aug;11(4):233-8.
Two young patients (a brother and his sister) with low ASA levels who had myoclonic seizures since the age of eight years, were investigated by means of electrophysiological, neuroradiological and laboratory tests and submitted to a physical examination. In both patients, the disease started at the age of eight years with drug resistent myoclonic seizures. Intelligence was not impaired and ASA levels were lower than normal, but clinical features were not those of classic MLD. Electrophysiological study revealed altered SEPs and normal BAEPs (they are both altered in leukodystrophy). Therefore our findings conclude that tour patients must be considered "Neurological patients non-MLD with low levels of ASA".
两名低芳基硫酸酯酶A（ASA）水平的年轻患者（姐弟），自8岁起就患有肌阵挛性癫痫，通过电生理、神经放射学和实验室检查进行了研究，并接受了体格检查。两名患者均在8岁时开始出现药物抵抗性肌阵挛性癫痫。智力未受损，ASA水平低于正常，但临床特征并非典型的异染性脑白质营养不良（MLD）。电生理研究显示体感诱发电位（SEPs）改变而脑干听觉诱发电位（BAEPs）正常（在脑白质营养不良中两者均改变）。因此，我们的研究结果表明，这两名患者必须被视为“低ASA水平的非MLD神经科患者”。
