新生儿先天性高胰岛素血症1例报告并文献复习

目的探讨先天性高胰岛素血症(CHI)临床特征及基因突变。方法回顾性分析1例CHI新生儿的临床资料并复习相关文献。结果患儿因生后反复低血糖,于出生24 d入院,基因检测提示ABCC8单一杂合突变位点,确诊CHI。二氮嗪试验性治疗有效,随访血糖正常。结论尽早完善基因检查有助于早期诊断CHI,且能指导CHI的远期临床管理。     

瓜氨酸血症一例

患儿男,１３岁,因头痛、嗜睡２３天,呕吐３天,意识不清１２小时入院。入院２３天前,因腹痛口服氨酚待因片（成份为对乙酰氨基酚和可待因）后１０分钟出现头痛,呈间歇性,伴嗜睡,走路时似喝醉酒样。２０天前抽搐１次,表现为双眼凝视,牙关紧闭,双手握拳,四肢强直...     

新生儿先天性高胰岛素血症3 例报告并文献复习

目的探讨新生儿先天性高胰岛素血症(CHI)发病机制、临床特征、基因诊断和治疗。方法回顾分析3例CHI新生儿的临床资料,并复习相关文献。结果 3例男性患儿分别在出生后15分钟至1小时内出现反复低血糖。2例患儿行全外显子基因检测,发现ABCC8基因杂合突变,1例行KCNJ11基因检测未发现变异。3例患儿均对二氮嗪治疗有效,出院1个月后电话随访血糖正常。检索文献,11种基因ABCC8、KCNJ11、GLUD1、GCK、HADH、UCP2、SLC16A1、HNF4A、HNF1A、HK1和PGM1变异与CHI相关。不同基因型的临床表现、药物反应及预后有显著差异。结论 CHI是一种单基因遗传病,基因检测有助诊断和治疗。     

新生儿瓜氨酸血症Ⅰ型一例ASS1基因突变研究北大核心CSCD

目的 对1例瓜氨酸血症Ⅰ型家系进行基因检测,阐明其病因,为该病的诊断和遗传咨询提供依据.方法 提取患儿及其父母外周血基因组DNA,采用Sanger测序对ASS1基因14个外显子进行DNA测序,Phyre软件分析ASS1蛋白分子的三级结构及功能.结果 检测到患儿有c.951delT （F317LfsX375）和c.1087C ＞T （R363W）两个杂合突变,分别遗传自父亲和母亲.蛋白质结构分析发现,c.951 delT影响ASS1蛋白分子的空间结构和功能.结论 ASS1基因c.951 delT和c.1087C＞T复合杂合突变是导致患儿瓜氨酸血症Ⅰ型的分子病因,c.951 delT为未见报道的突变类型,推测其改变了蛋白质分子的空间构型,从而影响ASS1蛋白的酶活性.     

新生儿瓜氨酸血症Ⅰ型一家系基因分析

目的 分析新生儿瓜氨酸血症Ⅰ型家系的基因变异特征.方法 回顾分析1例新生儿瓜氨酸血症Ⅰ型患儿的临床资料,提取患儿及其父母外周血基因组DNA,采用二代测序技术进行基因检测,Sanger测序、生物信息学分析和定量PCR进一步验证测序结果.结果 女性患儿,出生后反应差、四肢不规则抖动、肌张力增高,逐渐出现呼吸衰竭;血氨、血乳...     

新生儿戊二酸血症Ⅱ型1例

1 病历摘要 患儿女,23 d,因频繁抽搐15 d于2005-11-16入院.系第1胎第1产,足月经阴道娩出,出生体重3.2 kg,Apgar评分10分,母乳喂养,吸吮有力,生后第8天突然出现抽搐,初为左口角不自主抖动,渐扩展至四肢,病初3～5次/d,每次以鲁米那钠止痉缓解.抽搐发作渐频繁,发作间歇期精神反应尚好,入量可,无发热、呛咳、呼吸困难,无呕吐及腹泻.     

新生儿异戊酸血症2例并文献分析

1 临床资料 例1 患儿,男,第4胎第4产,生后5d,因“孕36周早产、进奶欠佳1d”入院.患儿在当地医院自然分娩,出生体重2 550 g,生后哭声可,Apgar评分不详.生后约3h开始配方奶喂养,吸吮好.生后第4d无明确诱因出现吃奶差,反应欠佳,无烦躁、哭闹等症状.未予特殊治疗,来院就诊时门诊以“上呼吸道感染”收住院.患儿有三个姐姐,均身体健康.否认家族中有遗传病史.入院查体：T36.5℃,P130次/分,R50次/分,     

高胰岛素血症伴高氨血症综合征1例报告并文献复习

目的探讨GLUD1基因变异所致高胰岛素血症伴高氨血症综合征临床表现和致病基因特点。方法回顾分析1例高胰岛素血症伴高氨血症综合征患儿的临床资料,并复习相关文献。结果女性患儿,1岁9个月起病,反复出现血糖偏低2年余,并惊厥发作3次,给予升血糖、止惊对症处理后可缓解;伴血胰岛素、血氨水平升高,诊断为高胰岛素血症伴高氨血症综合征。高通量测序发现患儿GLUD1基因存在错义变异c.965GA,p.Arg322His(杂合),其父母该位点均为正常基因型,为新生突变。结论基因检测有助于明确高胰岛素血症伴高氨血症综合征诊断。     

甲基丙二酸血症3 例报告并文献复习

目的探讨甲基丙二酸血症(MMA)伴同型半胱氨酸血症(cbl C)的临床及基因突变特点。方法回顾性分析经基因检测确诊的3例MMA患儿的临床资料及基因检测结果,并复习相关文献。结果 3例患儿均为男性。例1患儿26日龄,间断抽搐3 d入院;血甲基丙二酸175.8μmol/L,丙酰肉碱/乙酰肉碱比值(C3/C2)1.363,同型半胱氨酸65μmol/L,脑电图异常,MMACHC基因外显子1缺失,del EXON1未见文献报道。例2患儿12岁,因肢体抖动、抽搐、呕吐入院,血甲基丙二酸334.3μmol/L,C3/C2比值0.37,同型半胱氨酸65μmol/L,脑电图异常,MMACHC基因c.482GA、c.609GA突变。例3患儿3个月,因间断抽搐20 d入院,血甲基丙二酸154.3μmol/L、C3/C2 0.84,MMACHC基因c.394CT、c.540del8突变,其中c.540del8未见报道。文献复习发现,部分MMA患者合并癫痫发作,进一步验证MMACHC基因c.482GA突变可能与晚发型的cbl C相关。结论基因检测有助于MMA的诊断,MMACHC基因c.482GA突变可能与晚发型cbl C相关;del EXON 1、c.540 del 8为新突变。     

新生儿腹泻酸中毒引起高铁血红蛋白血症1例

患儿，女，21天。因腹泻，呕吐2天，全身紫错2小时入院。患儿为足月顺产，出生体重3.2kg，牛乳喂养，未服用任何药物。查体：体温36．8℃，脉搏130次／分，呼吸38次／分。全身皮肤粘膜明显紫绀，皮肤弹性差，前自、眼窝稍凹陷，口腔粘膜干燥，心肺查体未见异常，腹软，肝肋下1cm，脾肋下未触及，肠鸣音活跃。无神经系统阳性体征。血常规：血红蛋白93g／L，白细胞13．2×109／L，中性0.46，淋巴0．54。便常规：白细胞2～3／HP。便培养阴性。血电解质：K28mmol／L，Ns133mmol／L，Cl105mmol／L，HCO3－13mmol／L，BUN8．lmmol／L．动…     

A case of transient neonatal citrullinemia

A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days of age, the plasma citrulline concentration was 13 mg/dl (normal, <0.8). In addition, the citrulline concentrations in the urine and cerebrospinal fluid (CSF) were markedly elevated. The blood ammonia and the CSF ammonia concentrations (300 g/dl and 59 g/dl, respectively) were also increased, but the infant showed no symptoms. Dietary protein intake was restricted to 2 g/kg/day, resulting in normalization of plasma citrulline and blood ammonia concentrations by 2 months of age. At 12 months of age, the infant was given a regular diet, and his physical and mental development was normal. ¹⁴C-citrulline incorporation into trichloroacetic acid (TCA)-precipitable material was normal in the fibroblasts. This report describes the first case in the literature of transient neonatal citrullinemia.     

Therapeutic management of neonatal chylous ascites: report of a case and review of the literature

Congenital chylous ascites is a rare condition seen in the neonatal period and the data on pathogenesis and treatment modalities are limited. In this article, we report a case of neonate with chylous ascites and review the therapeutic management procedures on chylous ascites in childhood. We present our experience in the diagnosis and treatment of this condition. Conclusion: Medium‐chain triglycerides (MCT)‐based diet can be tried as a first option in chylous ascites treatment. In resistant or unresponsive cases, somatostatin along with TPN can have use in closing the lymphatic leakage or relieving the symptoms effectively and rapidly. Conventional regimens including enteral feeding with MCT‐based formula can then be re‐administered as a maintenance treatment after reduction of lymph flow with the use of total parenteral nutrition (TPN) and somatostatin infusion combination. Patient‐specific approach should be attempted for chylous ascites caused by various disorders and started as soon as possible.     

Retropharyngeal neuroblastoma in a neonate: case report and literature review

Primary cervical neuroblastoma (NB) in neonates is extremely rare. We treated a 1-day-old male neonate who presented with stridor and feeding difficulty and was subsequently diagnosed with NB of the retropharynx. The tumor was excised in toto transorally, and no metastatic lesions were confirmed. Histopathology and molecular genetic analysis showed poorly differentiated NB with no N-myc amplification, stage I NB. He has had no signs of recurrence or adverse sequelae during 18 months of follow-up. We report our experience and review the literature.     

儿童脂蛋白肾病1例报告并文献复习

目的探讨儿童脂蛋白肾病(LPG)的临床及预后。方法回顾性分析1例儿童LPG的临床资料,归纳总结国内外报道的儿童LPG的临床特点及预后。结果患儿,女,9岁,以尿频起病,初次尿检提示菌尿、血尿、蛋白尿,规律抗感染治疗1周后,仍有血尿、蛋白尿,血清白蛋白轻度降低,高脂血症,轻度贫血;肾脏组织活检,镜下可见肥大肾小球,扩张的肾小球毛细血管管腔,其内充以脂蛋白栓子,油红O染色阳性;电镜下多见层状或簇状"栓子"内含颗粒状脂质空泡。基因检测APOE Tokyo(Leu141-Lys143→0)。诊断为LPG,给予降脂治疗后病情明显缓解。结论儿童LPG罕见,血脂水平显著增高,激素治疗无效,肾脏穿刺活检是确诊的主要依据,基因检测提示其遗传背景;降脂治疗可缓解病情进展。     

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目的报道1例自身免疫性淋巴细胞增殖综合征的临床特点、诊断、治疗及随访,提高国内儿科医生对该病的认识。方法 2009年5月中山大学附属第一医院收治1例自身免疫性淋巴细胞增殖综合征患儿,回顾分析该患儿临床资料及诊疗过程,复习国内外相关文献。结果患儿1岁11个月,以全血细胞减少、肝脾淋巴结肿大为主要临床表现,并有肾小球肾炎、炎症性肠病的临床表现,CD3+且CD4、CD8双阴性细胞比例明显升高,伴PaIgG、ANA、ANCA、胰岛素自身抗体等抗体阳性。Fas、FasL及Casp10基因检测未发现基因突变。糖皮质激素联合其他免疫抑制剂治疗短期效果明显,但激素减量时易反复。结论本病例在临床上诊断自身免疫性淋巴增殖综合征可成立。提高对本病的认识可以减少误诊率。     

先天性食管闭锁术后贲门失弛缓症一例

患儿 男,4岁.因EA术后4年,反复食管梗阻2年就诊.患儿生后诊断为EA(Ⅲ型),于生后第2天行食管端端吻合术,术后患儿出现吻合口狭窄,定期给予食管扩张,患儿可进食半流质饮食.2年前患儿突然出现进食固体食物后呕吐,行胃镜检查示吻合口下方有一狭窄环,可见固体食物梗阻于此,将固体食物取出后好转,之后反复出现食管梗阻.2d前患儿再次出现进食丝瓜后呕吐来我院,给予禁饮食后自行缓解.患儿系第1胎第1产,足月顺产,混合喂养,生长发育同正常同龄儿.辅助检查:上消化道造影检查示食管下端(向下延续至贲门)长约31 mm狭窄,近端食管扩张,远端呈粗萝卜根样,钡剂下行受阻,但尚能通过(图1).     

特发性CD4+T淋巴细胞减少症1例分析及文献复习

目的分析特发性CD4^＋T淋巴细胞减少症的临床特点,并探讨其发病机制和治疗。方法对1例以反复发热13d,腹泻7d,嗜睡1d为主诉入院的14个月患儿进行临床和实验室总结,并结合文献进行分析。结果鉴于患儿2次检测外周血T淋巴细胞亚群均提示CD4^＋T淋巴细胞明显减少,并且排除了HIV感染,也无明显的已知病因或治疗相关因素引起免疫功能抑制,因此最后诊断考虑为：特发性CD4^＋T淋巴细胞减少症、脑实质炎症、肺炎、腹泻病、鹅口疮、电解质紊乱。结论尽管特发性CD4^＋T淋巴细胞减少症是一种非常罕见的疾病,但是在临床工作中仍可见到,因此应提高警惕,对出现机会感染和复杂感染的患儿,应及时考虑到免疫功能可能存在问题,尽快明确病因,以利于患儿的治疗和康复。     

新生儿原发性甲状旁腺功能亢进症1例报告及文献复习

原发性甲状旁腺功能亢进症(prim ary hyper鄄parathyroidism,PH PT)是一种内分泌功能异常疾病,可引发一系列代谢改变,累及骨骼、泌尿、消化、心血管、神经等多器官系统,对人体生理活动危害严重眼1演。其临床表现多样,症状复杂,易漏诊误诊,在儿童尤甚。我院于2004年11月收治新生儿PH PT1例,现就本病的诊断和治疗结合文献探讨如下。1临床资料患儿,男,21d。因腹胀、拒乳、呕吐、反应低下10余天,于2004年11月8日入我院治疗。无家族性甲状旁腺功能亢进症病史。体格检查:体重3.1kg(出生体重3kg)。反应低下,刺激不哭。乒乓头,前囟平,全身皮肤粘…     

Neonatal myocardial infarction secondary to umbilical venous catheterization: A case report and review of the literature

Neonatal acute myocardial infarction (MI) is a rare event, with a high mortality rate. Early recognition and intensive care management can be successful, and it requires a high index of suspicion in cases of unknown cardiogenic shock. The lack of access to cardiac catheterization should not delay management. Furthermore, there is great potential for myocardial regeneration to occur in surviving neonates with MI, emphasizing the importance of early recognition and management. The present report describes a neonate with an anatomically normal heart and coronary arteries who developed clinical, laboratory and electrocardiographic features of MI, and was managed successfully with fluid resuscitation, inotropic drugs and vasodilators.     

新生儿期起病的线粒体神经胃肠脑肌病1例并文献复习

目的 探讨新生儿期起病的线粒体神经胃肠脑肌病的临床特点,提高对该病的认识。方法 收集患儿临床资料,取外周血白细胞测定线粒体呼吸链复合体酶活性,根据酶活性测定结果进一步检测相应编码基因。复习文献,对该病新生儿期的临床表现、治疗方法及预后情况进行回顾。结果 患儿生后19 d发病,临床主要表现为体重不增、腹泻迁延,伴营养不良及贫血。患儿线粒体呼吸链复合酶Ⅰ和Ⅴ缺陷,外周血线粒体DNA测序证实MT-RNR1位置A750G突变,该突变可导致rRNA结构改变,确诊为线粒体神经胃肠脑肌病。予深度水解蛋白奶粉喂养,益生菌、B族维生素治疗后腹泻好转,体重增加满意。结论 以不明原因难治性腹泻为主要表现的新生儿,应警惕线粒体神经胃肠脑肌病的可能。