Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC 20010, USA.
Pediatr Neurol. 2011 Jul;45(1):57-9. doi: 10.1016/j.pediatrneurol.2011.02.003.
Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. Most patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we submit detailed magnetic resonance images in 4 affected female patients with PDHA1 mutations who had with severe cortical atrophy, dilated ventricles, and an incomplete corpus callosum. In one of these patients, the magnetic resonance imaging pattern prompted molecular diagnostic testing when enzymatic testing was normal. We underscore that this constellation of features, which may be misdiagnosed as periventricular leukomalacia, illustrates a pattern highly suggestive of a deficiency of pyruvate dehydrogenase E1 alpha in female patients and should trigger appropriate diagnostic investigations.
丙酮酸脱氢酶复合体是一种关键的线粒体多酶复合物，它将丙酮酸转化为乙酰辅酶 A。大多数丙酮酸脱氢酶缺乏症患者的 E1α亚基存在缺陷，与 PDHA1 基因突变有关。在本报告中，我们提交了 4 名 PDHA1 基因突变的受影响女性患者的详细磁共振图像，这些患者均有严重的皮质萎缩、脑室扩张和胼胝体不完全。在其中一名患者中，当酶学检测正常时，磁共振成像模式提示进行分子诊断检测。我们强调，这种特征组合可能被误诊为脑室周围白质软化症，表明女性患者的丙酮酸脱氢酶 E1α缺乏症模式高度提示，应触发适当的诊断研究。
