Zelnik N, Luder A S, Elpeleg O N, Gross-Tsur V, Amir N, Hemli J A, Fattal A, Harel S
Department of Paediatrics, Carmel Hospital, Haifa, Israel.
Dev Med Child Neurol. 1993 Apr;35(4):355-8. doi: 10.1111/j.1469-8749.1993.tb11649.x.
Before the establishment of N-acetylaspartic aciduria due to aspartoacylase deficiency as the cause of Canavan disease, diagnosis was based on the characteristic clinical features and spongiform encephalopathy, a pathological response shared by a number of other unrelated conditions. Thus confusion exists in the literature about the phenotype of spongiform encephalopathy (Canavan disease), with reports of 'juvenile' and 'congenital' forms, as well as the classical infantile type. In this report, six of 22 patients with infantile-onset Canavan disease survived beyond six years of age. This phenotypical pattern might be the result of better medical management and care, rather than evidence of genetic heterogeneity.
在因天冬氨酸酰基转移酶缺乏导致的N-乙酰天门冬氨酸尿症被确立为卡纳万病的病因之前，诊断是基于特征性临床特征和海绵状脑病，而海绵状脑病是许多其他不相关病症共有的病理反应。因此，文献中关于海绵状脑病（卡纳万病）的表型存在混淆，有“青少年型”和“先天性”形式以及经典婴儿型的报道。在本报告中，22例婴儿型卡纳万病患者中有6例存活至6岁以上。这种表型模式可能是更好的医疗管理和护理的结果，而非遗传异质性的证据。
