本文選題：Alpers綜合征 + 精神運動倒退�。� 參考：《中風與神經(jīng)疾病雜志》2017年09期

【摘要】：正Alpers綜合征是一種常染色體隱性遺傳的肝腦綜合征,其典型的臨床特征為難治性癲癇、應用丙戊酸后會發(fā)生急性肝衰竭、皮質(zhì)盲和精神運動倒退。發(fā)病年齡為1個月~25歲,以嬰幼兒常見,多在3歲內(nèi)死亡~([1])。Bernard Alpers首次于1931年報道了Alpers綜合征的神經(jīng)病理學及臨床特征~([2]),此后對于本病的研究逐步深入,國內(nèi)為北京大學第一醫(yī)院包新華等首次于2008年通過基因突變分析確診國內(nèi)首例Alpers綜合征~([3])。盡管如此,由于本病發(fā)病率極低,國內(nèi)
[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,
【作者單位】： 吉林大學白求恩第一醫(yī)院小兒神經(jīng)科;
【分類號】：R748
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本文編號：1766240