Department of Pediatrics, Children’s Hospital of Philadelphia, 3501 Civic Center Boulevard, Colket (CTRB), 9th Floor, Number 54, Philadelphia, PA 19104, USA.
Pediatr Neurol. 2011 Nov;45(5):283-91. doi: 10.1016/j.pediatrneurol.2011.07.006.
Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to diagnose, and thus a high index of suspicion is required. The early diagnosis of inborn errors of metabolism is crucial, considering that many can receive effective treatment (e.g., dietary supplementation or restriction) with favorable long-term outcomes. This review emphasizes the importance of considering inborn errors of metabolism in the differential diagnosis of neonatal seizures, discusses red flags for inborn errors of metabolism as a cause of neonatal seizures, and provides an overview of diagnoses and treatments of inborn errors of metabolism most commonly associated with neonatal seizures.
新生儿惊厥很常见，通常是中枢神经系统功能障碍的第一个临床指标。尽管大多数新生儿惊厥继发于缺氧缺血性损伤、感染或皮质畸形等过程（这些通过常规检查和影像学检查很容易识别），但代谢性疾病引起的惊厥更难诊断，因此需要高度怀疑。考虑到许多代谢性疾病可以通过有效的治疗（例如饮食补充或限制）获得良好的长期结果，早期诊断代谢性疾病至关重要。本综述强调了在新生儿惊厥的鉴别诊断中考虑代谢性疾病的重要性，讨论了代谢性疾病作为新生儿惊厥病因的危险信号，并概述了与新生儿惊厥最常见相关的代谢性疾病的诊断和治疗方法。
