Abstract：
Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation characterized by lactic acidosis and central nervous system involvement. Knowledge of the affected metabolic pathways and clinical observations suggest that early initiation of the ketogenic diet may ameliorate the metabolic and neurologic course of the disease. We present a case in which first trimester ultrasound identified structural brain abnormalities prompting a prenatal molecular diagnosis of PDCD. Ketogenic diet, thiamine, and N-acetylcysteine were initiated in the perinatal period with good response, including sustained developmental progress. This case highlights the importance of a robust neurometabolic differential diagnosis for prenatally diagnosed structural anomalies and the use of prenatal molecular testing to facilitate rapid, genetically tailored intervention.
摘要：
丙酮酸脱氢酶复合物缺乏症（PDCD）是一种碳水化合物氧化的线粒体疾病，其特征是乳酸性酸中毒和中枢神经系统受累。了解受影响的代谢途径和临床观察表明，早期开始生酮饮食可能会改善疾病的代谢和神经系统过程。我们介绍了一个案例，其中孕早期超声识别出结构性脑异常，提示了PDCD的产前分子诊断。生酮饮食，硫胺素,N-乙酰半胱氨酸在围产期开始，反应良好，包括持续的发展进步。此案例强调了对产前诊断的结构异常进行强大的神经代谢鉴别诊断的重要性，以及使用产前分子检测以促进快速，转基因干预。
