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目的 应用磁共振成像(MRI)观察苯丙酮尿症(PKU)治疗延迟患儿治疗前后脑髓鞘发育延迟与智商的关系。方法 2 0 0 2～2 0 0 3年中日友好医院确诊经典型治疗延迟PKU患儿1 7例,治疗前后分别进行头颅MRI及智商检查,脑髓鞘发育按Staudt标准对不同年龄阶段患儿1 0个脑区域进行量化评估。智商检测采用Gesell发育量表测定。结果 治疗前所有病例存在脑髓鞘发育延迟,在1 0个脑区域脑髓鞘发育延迟平均发生率为44 . 7% ,主要部位在脑叶和胼胝体,并存在不同程度的智力发育落后,平均智商为44 .2 ;经低苯丙氨酸饮食治疗1年后,1 0个脑区域髓鞘发育延迟平均发生率为3 0 . 6% ,平均智商为60 . 6;治疗前、后脑髓鞘延迟改善有显著性(P <0. 0 1 ) ,平均智商改善有统计学意义(P <0. 0 5) ,且智商改善率与髓鞘延迟改善率间可见部分相关性。结论 治疗延迟的PKU患儿的脑髓鞘发育延迟及智力发育落后发生率较高,经低苯丙氨酸饮食治疗可使其在一定程度有所改善,但不能达到完全正常,提示脑髓鞘发育延迟可能是导致PKU患儿智力发育落后的原因之一。
Objective To investigate the relationship between the delay of development of myelin sheaths and IQ in children with delayed-treatment of phenylketonuria (PKU) before and after treatment with magnetic resonance imaging (MRI). Methods Twenty-seven children with PKU were treated at the Sino-Japanese Friendship Hospital between the year of 2002 and the year 2003. The MRI and IQ tests were performed before and after treatment. The development of brain myelin sheath was evaluated according to Staudt criteria for children with different ages 0 brain regions for quantitative assessment. IQ tests were performed using the Gesell Developmental Scale. Results In all cases before treatment, there was delayed development of myelin sheath. The average delay of development of myelin sheath in 10 brain regions was 44.7%. The main sites were in lobar and corpus callosum with varying degrees of mental retardation. The average IQ was 44.2; after a year of treatment with low-phenylalanine diet, the average incidence of delayed myelin development in 10 brain regions was 30.6% with a mean IQ of 60.6; improvement of delayed myelination before and after treatment (P <0.01), and the average IQ improved statistically (P <0.05), and there was some correlation between the rate of improvement of IQ and the improvement rate of myelin delay. Conclusions Delayed onset of development of myelin sheath and delayed development of mental retardation in children with PKU delayed treatment may be improved to a certain degree by low-phenylalanine diet, but not completely normal, suggesting delayed development of brain myelin sheath May cause mental retardation of children with PKU one of the reasons.