| 摘要: |
| 目的:探讨Alpers综合征的诊疗特点。方法:对1例Alpers综合征患儿的疾病演化过程进行临床观察,并对该患儿实验室及影像学检查、基因突变情况、肝功能结果等进行分析。结果:Alpers综合征患儿典型的临床特征为难治性癫痫、进行性肝损伤特别是应用丙戊酸后出现的急性肝功能衰竭、精神运动倒退及皮质盲。实验室检查表现为肝功能异常、脑脊液蛋白升高、血或脑脊液乳酸升高;头部磁共振或CT扫描提示脑容积减少,脑电图提示多灶起源的高波幅慢波、棘波/多棘波活动;骨骼肌或肝脏组织活检可能发现线粒体DNA耗竭、多聚酶-γ活性缺陷;POLG基因测序可能发现相关位点的突变。结论:该例患儿临床表现、脑电图及影像学特征、脑脊液生化方面的变化及POLG1基因突变与Alpers综合征高度一致。POLG基因c.1809G>C的杂合核苷酸变异在Alpers综合征中首次报道,可能与该患儿的发病密切相关。应注意早期识别诊断,尽量避免使用丙戊酸或及时停用丙戊酸,并采用左卡尼丁进行保肝治疗 |
| 关键词: Alpers综合征 难治性癫痫 肝损伤 多聚酶γ |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2018.12.003 |
|
| 基金项目: |
|
| Diagnosis and Treatment for a Child with Alpers Syndrome |
| Yang Rui1, Peng Likun2, He Dake1 |
| (1. Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China; 2. Dali People's Hospital, Yunan Dali 671000, China) |
| Abstract: |
| Objective: To explore the diagnosis and treatment characteristics of Alpers syndrome. Methods: The disease evolution process of a child with Alpers syndrome was observed clinically, and the results of laboratory and imaging examination, genetic mutation and liver function were analyzed. Results: The typical clinical features of Alpers syndrome were respectively refractory epilepsy, progressive liver injury, especially acute liver injury after valproic acid treatment, psychomotor regression and cortical blindness. Laboratory examination showed abnormal liver function, elevated cerebrospinal fluid protein, elevated blood or cerebrospinal fluid lactic acid. MRI or CT scan of the head indicated a decrease in brain volume, and EEG suggested high-wavelength slow wave, spike/multiple spike activity of multi-focal origin. Skeletal muscle or liver biopsy might reveal mitochondrial DNA depletion and polymerase-γ activity deficiency. POLG gene sequencing might reveal mutations at related sites. Conclusion: The clinical manifestations, electroencephalogram and imaging characteristics, biochemical changes in cerebrospinal fluid and the mutation of POLG1 gene were highly consistent with Alpers syndrome. The heterozygous nucleotide variation of the POLG gene c. 1809G>C was first reported in Alpers syndrome and may be closely related to the onset of this disease. Attention should be paid to early identification diagnosis, so as to avoid using valproic acid or valproic acid in time and provide L-carnitine for hepatoprotective treatment. |
| Key words: Alpers syndrome refractory epilepsy liver injury polymerase γ |
