Komada S, Masuzugawa S, Taniguchi A, Narita Y, Kuzuhara S
Department of Neurology, Mie university School of Medicine.
Rinsho Shinkeigaku. 1996 May;36(5):699-701.
We report a 19-year-old man with mild form of phenylketonuria. The diagnosis was first made when he was examined for the tremor at 19 years of age. He had not received the Guthrie's screening test for phenylketonuria in infancy. His development of speech and walking was almost normal. Action and positional tremor developed at two years of age, and psychomotor deterioration at five years. His intelligence was of borderline, and he entered the special class for the mentally retarded at elementary school and junior high school. His skin and iris were less pigmented than those of Japanese young adults, and his hair was rather reddish. He had mild action tremor. He showed mild mental retardation, and the WAIS was 46 in PIQ, 70 in VIQ and 53 in total IQ. T2-weighted MRI of the brain showed high signal of the deep white matter around the posterior conus of the lateral ventricles. EEG showed paroxysmal abnormalities. Serum aminogram disclosed a marked elevation of phenylalanine. Analyses of pteridine in the serum and urine disclosed a low ratio of neopterine/biopterine. An assay of the dehydropteridine reductase in erythrocytes was normal. These laboratory data indicated that his condition was caused by a deficiency of phenylalanine hydroxylase deficiency.
我们报告一名19岁患轻度苯丙酮尿症的男性。该诊断首次作出是在他19岁因震颤接受检查时。他婴儿期未接受过苯丙酮尿症的古思里筛查试验。他的语言和行走发育基本正常。两岁时出现动作性和体位性震颤，五岁时出现精神运动发育迟缓。他的智力处于临界水平，小学和初中时进入了智障特殊班。他的皮肤和虹膜色素沉着比日本年轻人少，头发偏红。他有轻度动作性震颤。他表现出轻度智力障碍，韦氏成人智力量表（WAIS）结果显示，操作智商（PIQ）为46，言语智商（VIQ）为70，总智商为53。脑部T2加权磁共振成像（MRI）显示侧脑室后角周围深部白质高信号。脑电图显示阵发性异常。血清氨基酸谱显示苯丙氨酸显著升高。血清和尿液中蝶呤分析显示新蝶呤/生物蝶呤比例低。红细胞中二氢蝶呤还原酶测定正常。这些实验室数据表明他的病情是由苯丙氨酸羟化酶缺乏引起的。
