原发性婴儿痉挛与苯丙酮尿症合并婴儿痉挛脑髓鞘病变比较  

Comparison of the pathological of brain myelination between infants with primary west syndrome and those with phenylketonuria combined with West syndrome

作　　者：王志新[1] 周忠蜀[1] 

机构地区：[1]中日友好医院,北京100029

出　　处：《中国实用儿科杂志》2011年第7期524-526,共3页Chinese Journal of Practical Pediatrics

摘　　要：目的应用磁共振成像(MRI)对原发性婴儿痉挛与苯丙酮尿症(PKU)合并婴儿痉挛患儿脑髓鞘病变进行观察并比较。方法 2002年8月至2009年7月中日友好医院确诊的婴儿痉挛患儿19例,其中原发性婴儿痉挛(原发组)8例、PKU合并婴儿痉挛(PKU组)11例。分别进行头颅MRI检查,脑髓鞘发育按Staudt标准对不同年龄段患儿脑10个区域:小脑(CL)、桥脑(PO)、中脑(MES)、内囊后肢(ICPL)、内囊前肢(ICAL)、枕叶(OL)、额叶(FL)、顶叶(PL)、颞叶(TL)、胼胝体(CC)进行量化评估。结果 19例中髓鞘化延迟发生率为89.5%(17/19),其中原发组髓鞘化延迟发生率为75.0%(6/8),PKU组延迟发生率为100.0%(11/11),原发组发生髓鞘化延迟范围较普遍,10个区域均有发生,PKU组髓鞘化延迟的主要部位在FL、DL和CC,髓鞘化延迟发生区域数≥5个的PKU组与原发组比较,差异有统计学意义(P<0.05)。结论婴儿痉挛有较高的髓鞘化延迟发生率,其中PKU合并婴儿痉挛髓鞘化延迟发生率更高,且发生区域更集中,可能与血中苯丙氨酸增高影响脑髓鞘形成有关。Objective To observe delayed brain myelination of children in primary West syndrome and West syndrome combined with phenylketonuria with MRI. Methods The 19 patients were divided into two groups, 8 cases of primary west syndrome as primary group, 11 cases of phenylketonuria combined with west syndrome as phenylketonuria group. The myelination in ten sections was evaluated by using MRI Tland T2WI with Staudt＇ s staging system which was originally developed to evaluate brain myelination in heahhy ehildi^n at different age stages. Results The incidence of 10 sections of delayed myelination in all 19 West syndrome was cases 86%, primary group 75%, delayed in all regions;in phenylketonuria group it was 100%, mainly in cerebral lobes and corpus callosum; the incidence of delayed myelination more than 5 sections in one case showed statistically significant change （P 〈 0.05） between primary group and phenylketonuria group. Conclusion The patients with West syndrom had a higher incidence of delayed brain myelination; the incidence in phenylketonuria group is higher than that in primary group, maybe corresponding to high serum level of phenylalanine disturbing myelination process.

关 键 词：婴儿痉挛 苯丙酮尿症 髓鞘化 磁共振成像 

分 类 号：R72[医药卫生—儿科]