儿童丙戊酸钠相关性高血氨脑病的影像及临床表现

Imaging and clinical manifestations of valproate-associated hyperammonemic encephalopathy in children

目的分析儿童丙戊酸钠(VPA)相关性高血氨脑病(VHE)的影像及临床表现。方法收集我院8例VHE患儿的临床资料,所选患儿均行多层螺旋CT(MSCT)及磁共振成像(MRI),分析其颅脑影像及临床表现、治疗期间VPA血药及血氨水平,以及临床转归情况。结果本组共8例患儿,MSCT未见异常7例,1例双侧小脑及脑干密度减低。MRI未见异常2例,5例显示T1WI低、T2WI高信号,分别位于双侧小脑、基底节、额叶白质及双侧额颞顶叶散在分布;8例患儿临床均表现为嗜睡、意识障碍,其中3例以恶心呕吐为首发症状、1例伴持续癫痫发作。实验室检查患儿血氨水平升高,为(89~221)μmol/L,VPA浓度升高,为(106~137)mg/L,脑电图结果示患儿均为δ波、θ波为主的弥漫性慢波;停用或减少剂量VPA,并给予降压及降氨治疗后,所有患儿治疗临床症状缓解,血氨水平、血药水平恢复正常,视频脑电图节律恢复为α波。结论口服VPA易诱发VHE,VHE患儿MRI以不同位置脑水肿为主,MSCT检出率低,临床则表现为颅内压升高症状。VHE一旦确诊VHE,应立即停药或减少用药剂量。

Objective To analyze the imaging and clinical manifestations of VPA(sodium valproate)associated hyperplasma ammonia encephalopathy(VHE)in children.Methods Clinical data of 8 children with VHE in our hospital were collected.All the selected children underwent multi-slice spiral CT(MSCT)and magnetic resonance imaging(MRI),and the craniocerebral imaging and clinical manifestations,VPA blood drug and blood ammonia levels during treatment,and clinical outcome were analyzed.Results There were 8 cases in this group,7 cases had no abnormal MSCT,1 case had decreased density of bilateral cerebellum and brainstem.MRI showed no abnormalities in 2 cases,5 cases showed low T1WI and high T2WI signals,which were located in the bilateral cerebellum,basal ganglia,frontal white matter and bilateral frontotemporal parietal lobes.The clinical manifestations of all 8 cases were drowsiness and consciousness disorders,among which 3 cases presented nausea and vomiting as the first symptom,and 1 case was accompanied by continuous epileptic seizure.In the laboratory,the blood ammonia level of the children was increased,which was(89~221)mol/L,and the VPA concentration was increased,which was(106~137)mg/L.After stopping or reducing the dose of VPA and giving antihypertensive and ammonia-lowering treatment,all the children had relieved their clinical symptoms,their blood ammonia level and blood drug level returned to normal,and their video-electroencephalogram rhythm returned to the rhythm wave.Conclusion Oral administration of VPA is easy to induce VHE.MRI in children with VHE is dominated by cerebral edema at different locations,with a low detection rate of MSCT,and the clinical manifestations are increased intracranial pressure.Once VHE is confirmed,the drug should be stopped or the dosage should be reduced.