von Moers A, Sperner J, Michael T, Scheffner D, Schutgens R H
Kinderklinik der FU Berlin (KAVH).
Dev Med Child Neurol. 1991 Sep;33(9):824-8. doi: 10.1111/j.1469-8749.1991.tb14967.x.
This is a report of two patients with Canavan disease from the Federal Republic of Germany. One is a severely retarded, macrocephalic boy, who had the characteristic laboratory findings of Canavan disease and progressive leucodystrophy on neuro-imaging. The other is retarded, with signs of a cerebral movement disorder showing no deterioration during the first 15 months. The significance of aspartoacylase deficiency in Canavan disease for differential diagnosis, genetic counselling and prenatal diagnosis of leucodystrophy is discussed.
这是一份来自德意志联邦共和国的关于两名患有卡纳万病患者的报告。一名是严重智力发育迟缓、巨头畸形的男孩，他具有卡纳万病的典型实验室检查结果，并且在神经影像学上显示进行性脑白质营养不良。另一名智力发育迟缓，有脑运动障碍的体征，在最初的15个月里没有恶化。文中讨论了卡纳万病中天冬氨酸酰基转移酶缺乏在脑白质营养不良的鉴别诊断、遗传咨询和产前诊断中的意义。
