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Alpers disease: Report of two familial cases

机译:阿尔珀斯病:两例家族病例的报告

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摘要

Alpers syndrome is usually characterized by a clinical triad of psychomotor retardation, intractable epilepsy and liver failure in infants and young children. It is a hereditary disease with an autosomal recessive pattern of inheritance. Definitive diagnosis is shown by postmortem examination of the brain and liver. There is no known treatment. In this article two familial cases are reported.
机译:阿尔珀斯综合症的特征通常是婴儿和幼儿出现精神运动发育迟缓,顽固性癫痫和肝功能衰竭的临床三联征。它是一种遗传性疾病,具有常染色体隐性遗传。死后检查大脑和肝脏可显示明确的诊断。没有已知的治疗方法。本文报道了两个家族病例。

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