摘要
目的对比治疗前后四氢生物喋呤缺乏症 (tetrahydrobiopterindeficiency,BH4D)的神经系统表现 ,并观察其治疗前后脑白质的病变 ,为判断治疗效果提供客观的临床和影象学依据。方法BH4D患儿11例 ,男9例 ,女2例 ;年龄17周～4岁。给予四氢生物喋呤 ,美多巴 ,5_羟色胺口服治疗1年 ,行头颅MRI检查 ,采用staudt评估标准 ,对其脑白质病变进行治疗前后的观察评定 ,其中8例以Gesell发育量表测量进行量化比较。结果①治疗后8例Gesell发育量表发育指数较治疗前改善。②治疗前11例患儿 (100 % )均有髓鞘发育延迟 ,其中额叶11例(100 % ) ,枕叶8例 (72.7 % ) ,颞叶4例 (36.4 % ) ,顶叶3例 (27.3 % ) ,胼胝体发育不良6例 (54.5 % ) ,1例小脑发育不良 ,全部病例在双侧侧脑室周围T2加权像 (T2WI)上均有弥漫性高信号病灶。治疗后脑白质病变较前好转 ,但仍存在部分髓鞘发育延迟及T2WI异常高信号。结论治疗后BH4D患儿发育指数较前好转 ,临床症状的改善与脑白质病变具有一致性 ;BH4D患儿脑白质病变具有高发生率 ,表现为髓鞘发育延迟及异常的T2WI高信号 ,推测这种损害不仅与高苯丙氨酸血症有关 ,且与神经递质的合成下降有关 ;治疗后的脑白质病变较治疗前改善 ,与临床症状的改善相一致 ,但依然存在部分脑白质病变 。
Objective To evaluate clinical manifestations and to characterize magnetic resonance imaging(MRI)abnormalities in white matter and myelination functions in children with tetrahydrobiopterin(BH4)deficiency before and after treatment.Methods Cerebral MRI examinations with0.5T according to Staudt evaluation standards were undertaken in11children with BH4deficiency aged17weeks to4years(9males and3females)before and after the one_year treatment with BH4,L_Dopa and5_HTP.Eight of them were revaluated with the Gesell developmental scale.Results All11cases showed delayed myelination beˉfore treatment consisting of11cases in frontal lobe(100%),8(72.7%)in occipital lobe,4(36.4%)in temporal lobe and3(27.3%)in parietal lobe.Besides,six cases were with delayed myelination in corpus callosum(54.5%).Abnormal diffuse high signal in white matter were found by T 2 WI in all cases.It was noticed that there was slight improvements in white matter abnormalities after treatment although delayed myelination and abnormal diffuse high signals in white matter still existed.The development indexes in8cases before treatment were mild abnormality in2,moderate in4and severe in2,respectively.It was found that there was an obvious improvement after treatment consisting of normal in1,near to normal in3,mild in3and moderate in3,respectively.Conclusions There is a higher incidence of cerebral white matter characterized by deˉlayed myelination and abnormal T 2 WI diffuse high signals in white matter in children with BH4deficiency.It is most probably associated with the occurrence of PKU and the decreased synthesis of neurotransmitˉters.Patients'development index improves after treatment.The improvement of the clinical manifestations is in consistent with the white matter changes.Some patients remain white matter abnormalities that may be related to the dosage of BH4,different drug concentrations of serum and entering blood_brain barrier due to individual difference probably.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2005年第2期101-104,共4页
Journal of Clinical Pediatrics
关键词
四氢生物喋呤缺乏症
脑白质病变
磁共振成像
髓鞘
tetrahydrobiopterin deficiency white matter disease magnetic resonance imaging myelin sheath
