基因诊断新生儿期Alagille综合征一例

患儿,女,19 d,因“发现皮肤黄染17 d,腹胀1d”就诊于复旦大学附属儿科医院新生儿科。患儿胎龄38+5周,顺产出生,出生体重2．4 kg,否认窒息抢救史,脐带绕颈1周,羊水少(具体不详)。生后纯母乳喂养,24 h内排胎便,48 h内排完。入院前17 d(生后2~3 d)无明显诱因出现皮肤黄染,渐加重,不伴陶土样大便及尿布黄染,无发热及惊厥,无嗜睡及哭声尖直。外院予拉氧头孢、熊去氧胆酸、茵栀黄、益生菌治疗9 d,患儿无明显好转,1 d前出现腹胀,解陶土样便2次,发病来患儿神志清,精神可,混合喂养,奶量完成差,睡眠可,排尿正常。既往史：母孕7个月B超检查提示羊水偏少(具体不详)。家族史无殊。     

早产儿脑室内出血及并发症研究进展

早产儿脑室内出血(IVH)是在多因素作用下导致脑血流动力学不稳定,使室管膜生发基质层微静脉破裂出血.IVH可引起出血后脑室扩张、脑积水、脑白质损伤等一系列并发症,是新生儿死亡和存活者预后不良的重要原因之一.近年来,早产儿发生IVH后的远期预后及各种并发症的发生机制、预防和治疗成为研究热点,该文主要综述IVH的远期预后、并发症发生机制及治疗的研究进展.     

新生儿坏死性肺炎2 例报告并文献复习

目的分析新生儿坏死性肺炎的临床特点及诊治。方法回顾分析2例新生儿坏死性肺炎患儿的临床资料,并总结文献报道。结果 2例新生儿均确诊为社区获得性金黄色葡萄球菌致坏死性肺炎,以发热起病,胸片示渗出性改变伴囊性影,CT示为多发空洞改变,痰/血培养均为金黄色葡萄球菌阳性,万古霉素治疗有效,影像学检查随访示好转。通过数据库检索,共有4篇病例报道,加上本组2例共7例新生儿坏死性肺炎病例。致病菌均有金黄色葡萄球菌,其中1例合并有铜绿假单胞菌,6例为社区获得性感染,均发生于无免疫缺陷新生儿,6例为原发性坏死性肺炎,6例为单侧肺受累;5例有发热表现,5例合并败血症,分别有3例、2例、1例并发胸腔积液、气胸或支气管胸膜瘘,2例有肺外感染;C反应蛋白均明显升高;3例需要机械通气,6例预后良好。结论新生儿坏死性肺炎以金黄色葡萄球菌为主要致病菌,诊断主要依靠典型影像学和病原学检查,治疗主要选择针对革兰阳性球菌的抗生素。     

新生儿重症监护病房早产儿脑损伤危险因素分析

目的 调查新生儿重症监护病房(NlCU)早产儿脑损伤的发生情况并分析其高危因素.方法将2006年2月1日至2007年1月31日入住复旦大学附属儿科医院NICU的胎龄≤34周或出生体重≤2000 g的早产儿纳入研究.应用超声诊断仪对早产儿进行系列床边头颅B超检查.同时收集临床资料,分析早产儿脑损伤的发生率,用Logistic回归模型分析其危险因素. 结果 (1)328例早产儿完成系列头颅B超检查,141例(43.0%)发生脑室内出血(IVH),其中轻度101例,重度40例.9.8%的患儿(32/328)发生脑白质损伤(WMD).13.4%的患儿(44/328)发生持续脑室扩大.10.7%的患儿(35/328)在生后初次头颅B超筛查时即发现有颅内囊肿形成.(2)IVH组和WMD组患儿的出生体重和胎龄较未发病组低,差异有统计学意义(P<0.05).(3)Logistic回归分析提示出生体重、感染、小于胎龄儿、机械通气是IVH的独立危险因素.出生体重是WMD的独立危险因素. 结论 NICU早产儿脑损伤发生率较高.出生体重、感染、小于胎龄儿、机械通气是IVH的独立危险因素.出生体重是WMD的独立危险因素.     

新生儿重症监护病房早产儿脑损伤危险因素分析

Objective To investigate the incidence and the risk factors of preterm infants with brain damage in neonatal intensive care unit (NICU). Methods Premature infants ≤34 weeks of gestation or ≤ 2000 g of birth weight, admitted to NICU of the Children's Hospital of Fudan University from February 2006 to January 2007, were included in this study. Transcranial ultrasound was performed serially. Clinical data of the patients were analyzed to determine the incidence and the risk factors of brain damage. Results Totally 328 preterm infants achieved serial transcranial ultrasound scan. IVH occured in 141 cases (43.0%), among which, 101 infants had mild IVH, and 40 had severe IVH. Thirty two (9.8%) preterm infants had white matter damage (WMD), 44 (13.4%) had persistent ventricular enlargement and 35 (10.7%) had intracranial cystic lesions at the first transcranial ultrasound scan. The average birth weight and gestational age for preterm infants with IVH or WMD were significantly lower than those without (P<0.05). Birth weight, neonatal infection, small for gestational age, mechanical ventilation were independent risk factors of IVH, and birth weight was the only independent risk factor of WMD. Conclusions The incidence of brain damage in preterm infants remains relatively high in NICU. Birth weight, neonatal infection, small for gestational age, mechanical ventilation are independent risk factors of IVH. Birth weight is the independent risk factor of WMD.     

新生儿期起病的罕见肝窦阻塞综合征1例北大核心CSCD

患儿,男,1个月14 d,因腹胀2周,加重3 d入院。患儿生后曾有脐炎病史,体格检查示腹胀明显、腹壁静脉显露、肝脾触诊不满意,移动性浊音阳性。肝脏转氨酶轻度增高,肝脏超声及CT均提示门静脉肝内段及肝脏左中右静脉肝内段不显影、管腔闭塞、周边纤维增生,临床诊断为脐炎引发的肝窦阻塞综合征。入院后12 d患儿出现大量血性腹水,继发低血容量性休克、呼吸衰竭,家属放弃治疗后临床死亡。该文对新生儿期起病的肝窦阻塞综合征的诊断思路及多学科诊疗进行重点描述,并总结肝大、腹水的鉴别思路。