Paris Descartes University, Inserm U1129, Paris, France; CEA, Gif-sur-Yvette, France; Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Department of Child Neurology, University Children's Hospital, University of Zurich, Switzerland.
Lancet Neurol. 2014 Jul;13(7):727-39. doi: 10.1016/S1474-4422(14)70110-3.
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement disorders, and cognitive disturbances. However, the occurrence of epilepsy associated with inborn errors of metabolism represents a major challenge that needs to be identified quickly; for some cases, specific treatments are available, metabolic decompensation might be avoided, and accurate counselling can be given about recurrence risk. Some clinical presentations are more likely than others to point to an inborn error of metabolism as the cause of seizures. Knowledge of important findings at examination, and appropriate biochemical investigation of children with seizures of uncertain cause, can aid the diagnosis of an inborn error of metabolism and ascertain whether or not the seizures are amenable to specific metabolic treatment.
癫痫发作是一种常见的儿科问题，而先天性代谢缺陷是一种罕见的潜在病因。先天性代谢缺陷的临床表现常伴有其他神经系统症状，如张力减退、运动障碍和认知障碍。然而，与先天性代谢缺陷相关的癫痫发作是一个需要迅速识别的重大挑战；对于某些病例，可提供特定的治疗，避免代谢失代偿，并可就复发风险进行准确的咨询。某些临床表现比其他临床表现更有可能提示癫痫发作是由先天性代谢缺陷引起的。了解检查中的重要发现，以及对原因不明的癫痫发作患儿进行适当的生化检查，有助于诊断先天性代谢缺陷，并确定癫痫发作是否可以进行特定的代谢治疗。
