Alpers综合征2例报道并文献复习

发布时间：2018-04-18 01:37

  本文选题：Alpers综合征 + 精神运动倒退　； 参考：《中风与神经疾病杂志》2017年09期

【摘要】：正Alpers综合征是一种常染色体隐性遗传的肝脑综合征,其典型的临床特征为难治性癫痫、应用丙戊酸后会发生急性肝衰竭、皮质盲和精神运动倒退。发病年龄为1个月~25岁,以婴幼儿常见,多在3岁内死亡~([1])。Bernard Alpers首次于1931年报道了Alpers综合征的神经病理学及临床特征~([2]),此后对于本病的研究逐步深入,国内为北京大学第一医院包新华等首次于2008年通过基因突变分析确诊国内首例Alpers综合征~([3])。尽管如此,由于本病发病率极低,国内
[Abstract]:Positive Alpers syndrome is an autosomal recessive hepatic encephalopathy syndrome, which is characterized by intractable epilepsy. Acute liver failure, cortical blindness and psychomotor regression can occur after valproic acid administration.The age of onset was from 1 month to 25 years old. Most infants died within 3 years old ([1]) Bernard Alpers reported the neuropathology and clinical features of Alpers syndrome for the first time in 1931 ([2]).The first case of Alpers syndrome in China was diagnosed by gene mutation analysis in the first hospital of Peking University in 2008.Nevertheless, due to the extremely low incidence of the disease,
【作者单位】： 吉林大学白求恩第一医院小儿神经科;
【分类号】：R748
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本文编号：1766240