Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

Boes M; Bauer J; Urbach H; Elger CE; Frank S; Baron M; Zsurka G; Kunz WS; Kornblum C

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Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

机译：随着时间的推移证明进展情况：与A467T POLG1突变相关的Alpers综合征最终使大脑，肌肉和肝部疾病暴发。

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This case concerns a 17-year-old boy, who was given the diagnosis of Alpers syndrome only postmortem when a homozygous 1399G-->A (A467T) mutation was found in the linker-region of POLG1. Serial muscle and liver biopsies as well as brain MRI scans in our patient ranging from early childhood to postmortem analyses showed that (i) routine diagnostic procedures can be normal in the early stage of the disorder and that (ii) central nervous system and further organ affection may only develop in the time course of the disease. Consecutive diagnostic examinations clearly reflected the devastating clinical course and cerebral deterioration evolving over time in Alpers syndrome.

机译：该病例涉及一个17岁的男孩，只有在POLG1的连接子区域发现纯合1399G-> A（A467T）突变时才被诊断为Alpers综合征。从幼儿期到死后分析的一系列患者的一系列肌肉和肝脏活检以及脑MRI扫描显示，（i）疾病早期可以进行常规诊断，并且（ii）中枢神经系统和其他器官情感可能只会在疾病的发展过程中发展。连续的诊断检查清楚地反映了Alpers综合征的毁灭性临床过程和脑部恶化。

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《Seizure: the journal of the British Epilepsy Association》 |2009年第3期|共3页
作者
Boes M; Bauer J; Urbach H; Elger CE; Frank S; Baron M; Zsurka G; Kunz WS; Kornblum C;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Syndrome; Affection; Mutation; Muscles; Liver; 综合征; 突变; 肌; 肝;

机译：Syndrome;Affection;Mutation;Muscles;Liver;综合征;突变;肌;肝;

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1. Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. [J] . Boes M, Bauer J, Urbach H, Seizure: the journal of the British Epilepsy Association . 2009,第3期

机译：随着时间的推移证明进展情况：与A467T POLG1突变相关的Alpers综合征最终使大脑，肌肉和肝部疾病暴发。
2. Improved time to disease progression in the brain in patients with melanoma brain metastases treated with concurrent delivery of radiosurgery and ipilimumab [J] . Skrepnik Tijana, Sundararajan Srinath, Cui Haiyan, Oncoimmunology. . 2017,第3期

机译：通过同时递送放射外科和IPILIMIMAB治疗的黑色素瘤脑转移患者患者患有脑卒中的疾病进展的时间
3. Reye's Syndrome: Preservation of Mitochondrial Enzymes in Brain and Muscle Compared with Liver [J] . Brian H Robinson, Jennifer Taylor, Ernest Cutz, Pediatric Research . 1978,第11期

机译：里氏综合症：与肝脏相比，保存在大脑和肌肉中的线粒体酶
4. Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene [O] . Ewa Pronicka, Anna Węglewska-Jurkiewicz, Maciej Pronicki, 2011

机译：耐药性癫痫和丙戊酸盐暴发性肝毒性。通过鉴定POLG基因中的p.W748S突变确认了两名儿童的Alpers-Huttenlocher综合征
5. Proof of progression over time: Finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation [O] . Boes M., Bauer J., Urbach H., 2009

机译：随着时间的推移证明进展：最后是与A467T POLG1突变相关的Alpers综合征暴发的大脑，肌肉和肝脏疾病

Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

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