Bahi-Buisson N, Mention K, Léger P L, Valayanopoulos V, Nabbout R, Kaminska A, Plouin P, Dulac O, de Lonlay P, Desguerre I
Service de Neuropédiatrie et Maladies Métaboliques, Hôpital Necker-Enfants-malades, Assistance publique-Hôpitaux de Paris, 149, rue de Sèvres 75015 Paris, France.
Arch Pediatr. 2006 Mar;13(3):284-92. doi: 10.1016/j.arcped.2005.10.024. Epub 2005 Dec 15.
Metabolic disorders constitute an important cause of neurologic disease, including neonatal epilepsy. Epilepsy rarely dominates the clinical presentation, which is more frequently associated with other neurologic symptoms, such as hypotonia and/or vigilance disturbances. In most cases, epilepsy secondary to inherited metabolic disorders presents with polymorphic clinical and electrographic features that are difficult to classify into precise epileptic syndromes. However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease. The aim of this article is to help clinicians in reviewing potential metabolic diagnoses and approaching metabolic evaluations.
代谢紊乱是包括新生儿癫痫在内的神经系统疾病的重要病因。癫痫很少在临床表现中占主导地位,其更常与其他神经系统症状相关,如肌张力减退和/或警觉性障碍。在大多数情况下,继发于遗传性代谢紊乱的癫痫具有多形性临床和脑电图特征,难以归类为精确的癫痫综合征。然而,特定类型的发作,如肌阵挛发作或独特的脑电图模式,如抑制爆发模式、癫痫综合征或早期肌阵挛性脑病,可能提示特定的代谢疾病。本文旨在帮助临床医生回顾潜在的代谢性诊断并进行代谢评估。