Division of Pediatric Neurology, Pediatric Institute Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
J Inherit Metab Dis. 2011 Apr;34(2):439-41. doi: 10.1007/s10545-011-9278-8. Epub 2011 Feb 9.
Alpers' syndrome is a progressive and often fatal cerebral and hepatic degeneration caused by a mutation in the polymerase gamma (POLG) gene involved in mitochondrial DNA replication.
We report on eight successive cases from five families.
Our analysis consisted of case series reports and literature search.
The eight patients were from five extended families, all with clinical manifestations of the syndrome. Seven were confirmed by POLG sequence analysis and one died before testing was possible. We observed that whereas the five females presented with advanced hepatic disease at the onset of neurological symptoms, the three males had normal hepatic function well after presentation, with progressive neurological disease. Two of the three males are distant relatives; two of the five females were sisters of two male patients.
Most authors report the coexistence of both hepatic and cerebral disease at the onset of Alpers' syndrome. It is unusual that all three males in our series had no signs of liver disease but had advanced neurological signs.
Initial manifestations in Alpers' syndrome may be gender specific. In males, the condition should be considered in patients with seizures and encephalopathy, even in the absence of hepatic disease.
Alpers 综合征是一种进行性且常致命的脑和肝退化症，由涉及线粒体 DNA 复制的聚合酶γ（POLG）基因突变引起。
我们报告了来自五个家庭的连续 8 个病例。
我们的分析包括病例系列报告和文献检索。
这 8 名患者来自五个扩展家族，均具有该综合征的临床表现。其中 7 例经 POLG 序列分析证实，1 例在检测前死亡。我们观察到，5 名女性在出现神经症状时即表现出晚期肝疾病，而 3 名男性在出现神经疾病后很长时间内肝脏功能仍正常。这 3 名男性中有 2 人是远亲，5 名女性中有 2 人是 2 名男性患者的姐妹。
大多数作者报告 Alpers 综合征的发病时同时存在肝和脑疾病。在我们的系列中，所有 3 名男性均无肝脏疾病迹象，但却有严重的神经疾病，这是不常见的。
Alpers 综合征的初始表现可能具有性别特异性。在男性中，即使没有肝脏疾病，也应考虑有癫痫发作和脑病的患者是否患有该疾病。
