新生儿惊厥与遗传代谢性疾病的临床研究

Clinical study of neonatal convulsions and inherited metabolic diseases

目的探讨新生儿惊厥的病因及相关因素,为临床诊治提供参考。方法研究对象为2013年1月至2016年6月,于四川大学华西第二医院儿科住院治疗的新生儿惊厥患儿81例,以及同期进行了遗传代谢性疾病筛查的婴幼儿79例。采用回顾性研究的方法,分析惊厥新生儿的基本情况、病因、发作情况、患儿预后及遗传代谢性疾病筛查的结果。结果颅内出血共19例(23.5%,19/81),为新生儿惊厥的首位病因。代谢紊乱共31例,包括电解质紊乱13例(16.0%,13/81)、低血糖12例(14.8%,12/81)、代谢性酸中毒及其他代谢紊乱6例(7.4%,6/81)。81例惊厥患儿中,9例进行了遗传代谢病筛查,其中4例明确诊断,1例放弃治疗后失访,1例出现精神运动发育迟滞,2例治疗后未再出现惊厥发作,精神运动发育未见明显异常。同期79例遗传代谢性疾病筛查婴幼儿中,8例确诊,4例出现不同程度的神经系统后遗症状,2例体格发育异常。结论新生儿惊厥病因复杂,与颅内出血、HIE、代谢紊乱及遗传代谢性疾病均有关,需加强遗传代谢性疾病的筛查,以早期识别及处理可能存在的代谢性疾病,防止神经损伤进行性加重。

Objective To explore the etiology and related factors of neonatal convulsions and provide evidence for clinical diagnosis and treatment.Methods From January 2013 to June 2016,in the West China Second University Hospital,81 patients who were diagnosed with neonatal convulsions and 79 ones who were screened for genetic metabolic diseases were included.A retrospective study was conducted to analyze the basic conditions,etiology,outbreak,prognosis and the hereditary metabolic results of these cases.Results The primary cause of neonatal convulsions was intracranial hemorrhages,which were 19 cases(23.5%,19/81).There were 31 cases of patients with metabolic disorders,including 13 cases of electrolyte disturbance(16.0%,13/81),12 cases of hypoglycemia(14.8%,12/81),6 cases of metabolic acidosis and other metabolic disorders(7.4%,6/81).In the 81 cases with neonatal convulsions,9 cases screened inherited metabolic disease,and 4 cases were diagnosed definitively.1 case lost to follow-up after giving up treatment.1 case showed psychomotor retardation.2 cases were recovery with no convulsions after treatment.Among the 79 genetic metabolic diseases screening cases,8 cases was confirmed,4 cases showed different degrees of neurological sequelae,and 2 cases were with abnormal physical development.Conclusions The causes of neonatal convulsions are complex and associated with intracranial hemorrhage,hypoxic ischemic encephalopathy(HIE),metabolic disorders and genetic metabolic diseases.The screening of genetic metabolic diseases should be strengthened,so as to identify and treat the possible metabolic diseases in the early stage,then to prevent the neurological injury progressing.