摘要
目的探讨儿童周期性呕吐附加症（CVS＋）的临床特征和预后。方法回顾性总结分析2011年10月至2014年2月在首都医科大学附属北京儿童医院神经内科和消化科诊断的5例CVS＋患儿的临床特征、线粒体基因检测结果和预后。结果 5例CVS＋病例,女4例,男1例。就诊年龄5.8~10.4岁;起病年龄2~7岁,病程2.4~6.7年。12例体重〈同年龄儿童P3,1例身高〈同年龄儿童P3。25例均以反复周期性呕吐为首发和主要症状,持续2~8 d,呕吐发作间期为1周至6个月;5例在起病时或起病后1~15个月合并其他神经系统异常,包括植物神经功能紊乱1例、焦虑和抑郁1例、癫和肌病3例、共济失调2例。5例均有母系家族病史,包括偏头痛4例、眼震3例、耳聋2例、运动不耐受3例。32例呕吐期血气分析示代谢性酸中毒,呕吐缓解后恢复正常;2例呕吐期血乳酸增高,伴有代谢性酸中毒,呕吐间期持续存在;4例呕吐期伴低钾血症、低钠血症或低氯血症,呕吐缓解后恢复正常;5例头颅MR平扫均显示脑萎缩,双侧基底节对称短T1信号1例,双侧基底节对称长T2信号1例,左侧枕叶长T2异常信号1例;4例EEG可见发作间期样放电。44例行线粒体基因全测序,2例3243A〉G热点突变,突变比例为65.6%和34.0%,考虑线粒体脑病伴乳酸中毒及卒中样发作;2例为16519T〉C多态性。55例呕吐发作期予对症治疗。3例予抗癫药物;4例随访12~21个月,2例呕吐缓解不明显,2例呕吐缓解6个月,3例辍学。结论反复呕吐并伴其他神经系统疾病的患儿应注意CVS＋的可能,可能是线粒体病的一种特殊临床表现。
Objective To analyze the clinical manifestations and prognosis of cyclic vomiting syndrome plus（ CVS ＋）.Methods CVS＋ children in Neurology Department and Digestive Department at Beijing Children＇s Hospital,Capital Medical College from Oct. 2011 to Feb. 2014 were retrospectively analyzed. The clinical manifestations,genetics and prognosis were summarized.Results Five cases（ 4 females and 1 male） were enrolled,with the age of seeing doctors ranging from 5. 8 to 10. 4 years and the age of onset ranging from 2 to 7 years. Course of disease ranged from 2. 4 to 6. 7 years. 1Weight of 2 cases and height of 1 case was below the 3rd percentile. 2All 5 cases had recurrent vomiting as the first and main symptom,vomiting lasted for 2-8 days,interval ranged from 1 week to 6 months. All cases had additional neurology diseases or symptoms after 1- 15 months of the first onset. One child had automotive nerve disorder,1 child had anxiety and depression,3 children had epilepsy and myopathy,2children had ataxia. All cases had maternal family history,including 4 cases for migraine,3 for nystagmus,2 for deaf and 3 for exercise intolerance. 3Two cases had metabolic acidosis during vomiting period,and recovered after vomiting remission. Two cases had elevated lactic and metabolic acidosis in vomiting period and interphase. Four cases had hypokalemia and hyponatremia during vomiting episode,and get well after remission. All cases had brain atrophy on brain MRI. One case had short T1 signal on bilateral basal ganglia. Another 1 case had long T2 signal on bilateral basal ganglia. And 1 case had long T2 signal on left occipital lobe.Four cases had epileptic discharge on inter-ictal phase. 4 Four cases received mitochon-drial gene sequencing,2 of them had3243AG mutation,mutation ratio was 65. 6% and 34. 0%,diagnosed with mitochondria encephalopathy with lactic acidosis and stroke like seizures. Two cases carried polymorphism 16519 T C. 5 All cases received symp-tomatic treatment during vomiting phase. Three cases took antiepil
出处
《中国循证儿科杂志》
CSCD
北大核心
2015年第5期372-375,共4页
Chinese Journal of Evidence Based Pediatrics
关键词
周期性呕吐附加症
线粒体病
临床特征
Cyclic vomiting syndrome plus
Mitochondrial disease
Clinical feature
