Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Background  Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course. Materials and methods  We describe the case of a term baby boy who was diagnosed with PS early in the neonatal period due to severe aregenerative anemia and persistent lactic acidosis. Results  His neurological examination was abnormal since birth. Brain magnetic resonance imaging (MRI) at term was abnormal, indicating that mitochondrial encephalopathy in PS can be already manifested in the neonatal period. To our knowledge, neonatal encephalopathy in PS has not been previously described. Conclusion  PS is a rare condition diagnosed in the newborn. It should be suspected in the presence of severe anemia and persistent lactic acidosis, and may manifest with early encephalopathy.     

Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis

The Proteus syndrome (PS) and the Bannayan-Zonana syndrome (BZS) both have multiple hamartomata as prominent features. Hemihypertrophy, macrodactyly, exostoses, skin lesions, scoliosis, and sporadic occurrence are seen in PS, whereas patients with BZS have macrocephaly and related craniofacial findings. BZS has been observed in families as an autosomal dominant trait. Although the two syndromes can be distinguished in most patients, there are features in common to both that may pose a diagnostic dilemma in an isolated case. We report the case of a 3-year-old girl with macrocephaly, macrodactyly, and superficial and intra-abdominal hamartomata who illustrates the problem of differentiating recently reported patient with other published cases of PS and BZS. Patients with PS, in general, show more extensive systemic involvement, including skeletal and cutaneous manifestations. Macrocephaly, seen in all reported patients with BZS, is also found in 14% of patients with PS. Overlap among syndromes which include hamartomata as prominent features suggests that they might be etiologically or pathogenetically related. The present case also illustrates the usefulness of imaging techniques in the diagnosis of mixed mesodermal hamartomata.Abbreviations PS Proteus syndrome - BZS Bannayan-Zonana syndrome - OFC occipito-frontal circumference - CT computed tomography - MRI magnetic resonance imaging     

肺表面活性物质治疗新生儿重症胎粪吸入综合征的疗效评价

目的评价外源性肺表面活性物质(PS)治疗重症胎粪吸入综合征(MAS)的疗效。方法将43例重症MAS病例随机分成两组,20例作治疗组,在上呼吸机及常规治疗同时应用PS治疗;23例患儿作对照组,予呼吸机及常规治疗,观察监测两组患儿的肺氧合功能、病程及预后。结果治疗后的不同时期,治疗组患儿的氧合指数低于对照组,差异有显著性(P<0.05);动脉/肺泡氧分压比值(a/APO2)高于对照组,差异有显著性(P<0.05);治疗组机械通气时间、用氧时间和住院时间均显著少于对照组(P<0.05)。结论PS治疗能有效地改善MAS患儿的肺氧合功能,可缩短应用机械通气及用氧的时间及病程。     

肺表面活性物质治疗急性呼吸窘迫综合征研究现状

肺表面活性物质（pulmonary surfactant,PS）是急性呼吸窘迫综合征（acute respiratory distress syndrome,ARDS）的治疗手段之一,但治疗效果尚不明确。相关研究表明,不同种类的PS、给药剂量、给药方式等因素均可能影响PS使用效果。该文对PS治疗ARDS的研究现状进行概述。     

�α�������������Ƽ��Ժ��������ۺ����о���״

??Pulmonary surfactant??PS?? is one of the treatments for acute respiratory distress syndrome??ARDS????but the curative effect is still unsure. The results of current studies indicate that different kinds??doses and delivery methods of PS may affect the outcomes. This paper makes a review of the current status of PS in the treatment of ARDS.     

新生儿呼吸窘迫综合征患儿血清TGF-β1及BMP-7的表达及意义

目的　了解新生儿呼吸窘迫综合征(NRDS)患儿血清中TGF-β1和BMP-7的表达趋势, 为临床NRDS的早期防治提供帮助。方法　32例出生后12 h内给予肺表面活性物质(PS)的NRDS早产儿作为PS组; 28例未使用PS的NRDS早产儿作为非PS组; 另外选同期无NRDS的早产儿30例作为对照组。分别于生后0、1、3、7 d采用ELISA检测3组患儿血清中TGF-β1和BMP-7的表达情况。结果　PS组血清TGF-β1表达量在生后1、3 d高于对照组(PPPPPP结论 NRDS患儿早期血清TGF-β1和BMP-7的表达均增加, 后期随着血清TGF-β1表达的增加, BMP-7的表达呈下降趋势, 提示给予外源性BMP-7可能降低TGF-β1的表达, 这可能成为治疗NRDS的途径之一。     

不同种类肺表面活性物质治疗新生儿呼吸窘迫综合征的疗效比较

目的：综合分析进口肺表面活性物质（pulmonary surfactant,PS）猪肺磷脂注射液（猪 PS）与国产牛肺表面活性剂（牛 PS）治疗新生儿呼吸窘迫综合征（NRDS）的临床疗效,以便科学选用。方法：回顾分析2006年1月至2011年6月随机选用猪PS和牛PS治疗的180例Ⅳ级NRDS患儿（每组90例）的临床资料,比较两组胸片及不同时段血气分析结果改善、并发症的发生、住院时间及住院费用等。结果：猪PS组有效率（97%）高于牛PS组（83%）（P＜0.01）;猪PS组治愈率（84%）亦高于牛PS组（66%）（P＜0.01）;猪PS组气胸发生率（3%）低于牛PS组（7%）（P＜0.05);猪PS组住院时间（21±4 d）较牛PS组（23±4 d）短（P＜0.05);两组平均住院总费用差异无统计学意义（P＞0.05）。结论：治疗Ⅳ级NRDS猪PS优于牛PS。     

Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature

Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion‐dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal‐onset PS cases to stress the importance and limitations of BM evaluation at this age.     

猪肺表面活性物质联合布地奈德混悬液气管内滴入治疗新生儿胎粪吸入综合征的疗效观察

目的探讨猪肺表面活性物质(PS)联合布地奈德混悬液气管内滴入治疗新生儿胎粪吸入综合征(MAS)的临床效果。方法采用前瞻性研究法,将70例MAS新生儿随机分成治疗组与对照组(n=35)。对照组常规给予气管内滴入PS(100 mg/kg)治疗,治疗组在此基础上加用布地奈德(0.25 mg/kg)治疗。结果治疗组在治疗后12 h需重复使用PS的比例明显低于对照组(P0.05)。治疗组在治疗后6 h、12 h、24 h动脉氧分压与吸入氧浓度比值(Pa O_2/Fi O_2)、经皮血氧饱和度(Tc Sa O_2)、动脉血氧分压(Pa O_2)、动脉血二氧化碳分压(Pa CO_2)的改善情况明显优于对照组(P0.05)。治疗后48 h胸片显示治疗组肺部炎症吸收明显优于对照组(P0.05);治疗组并发症的发生率明显低于对照组(P0.05),平均住院时间也较对照组明显缩短(P0.01)。结论与单用PS比较,PS联合布地奈德混悬液气管内滴入治疗新生儿MAS能更好改善血气指标和临床症状,缩短住院时间,减少并发症。     

肺表面活性物质联合布地奈德干预治疗对伴呼吸窘迫综合征的低出生体质量儿心功能的保护作用

目的探讨肺表面活性物质(PS)联合布地奈德对伴呼吸窘迫综合征(RDS)的极低出生体质量儿(VLBWI)心功能的保护作用,并评估联合用药的效果。方法选取2010年8月-2011年3月南京市妇幼保健院收治的胎龄<34周、出生体质量<1 500 g、出生4 h内发生RDS的早产儿30例,将其随机分为PS+布地奈德组和PS组。PS+布地奈德组使用PS和布地奈德混合剂(每70 mg PS中加入0.25 mg布地奈德),PS剂量70 mg.kg-1,布地奈德0.25 mg.kg-1。PS组单使用PS,剂量70 mg.kg-1。在出生30～60 min由气管内滴入。于1、7、14 d进行血清CK-MB和肌钙蛋白测定,同时进行超声心动图检查,对左心室射血分数(LVEF)、右心室射血分数(RVEF)、二尖瓣舒张早期和舒张晚期血流峰比值(MVE/A)、三尖瓣舒张早期和舒张晚期血流峰比值(TVE/A)、左心室(LV)-Tei指数进行测定。结果 PS+布地奈德组血清CK-MB和肌钙蛋白14 d低于PS组(Pa<0.05);与PS组比较,PS+布地奈德组心脏收缩功能LVEF 14 d明显增加(P<0.05),RVEF 7、14 d均明显增加(Pa<0.05)。2组MVE/A和TVE/A均逐渐增加,PS+布地奈德组增加明显,MVE/A 14 d,TVE/A 7、14 d与PS组比较差异有统计学意义(Pa<0.05)。PS+布地奈德组LV-Tei指数14 d低于PS组(P<0.05)。结论使用PS联合布地奈德对伴RDS的VLBWI进行干预对其心脏具有保护作用,可促进心脏功能恢复。     

The cerebellar “tilted telephone receiver sign” enables prenatal diagnosis of PHACES syndrome

Objectives

To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle.

Pulmonary sling: Morphological findings. Pre- and postoperative course

Pulmonary sling (PS) is a congenital condition in which the left pulmonary artery (LPA) arises from the right pulmonary artery (RPA), forming a sling around the trachea causing tracheal compression. The incidence is not so rare as initially thought. Symptoms of severe airway obstruction often begin in the newborn or young infant. Echo-colour-Doppler may reveal the PS but emphysema can mask the typical findings. Deviation of fluid-filled lungs may be detected prenatally. Chest radiographs show unusual air distribution, deviation of heart and mediastinum and altered tracheobronchial angles. Bronchography and bronchoscopy demonstrate the high incidence of associated tracheal anomalies such as cartilagenous rings and long tracheal stenosis. Anterior oesophageal indentation is not always seen in the oesophogram. Magnetic resonance imaging (MRI) and computed tomography (CT) reveal the PS, but cautious interpretation is necessary because of different levels of the anomalous LPA. PS and associated cardiovascular malformations can be clearly detected by angiography. Associated extrathoracic anomalies are common. Early diagnosis and therapy of PS is mandatory and consists of reimplantation of the LPA into the pulmonary trunk and division of the ligamentum arteriosum. The postoperative course may be cumbersome necessitating bronchological interventions. Tracheal resection may be necessary but restenosis is frequent. A one-stage repair has been proposed in such cases and was successfully done in a few reported cases. Relief of respiratory obstruction is often complete when there are no associated tracheobronchial anomalies. Late postoperative course is favourable but respiratory obstructive attacks may occur with decreasing incidence over time and tracheal growth.     

新生儿呼吸窘迫综合征应用肺表面活性物质治疗后并发症的对照研究

目的：探讨肺表面活性物质(PS)替代治疗新生儿呼吸窘迫综合征(RDS)的并发症发生情况。方法：采用前瞻性临床对照研究方法,将98例RDS患儿分为PS治疗组和对照组,研究两组机械通气的天数、氧疗时间、住院天数、存活率以及并发呼吸机相关性肺炎、动脉导管未闭、颅内出血、肺出血、肺气漏、支气管肺发育不良(BPD)及呼吸暂停的发生情况。结果：治疗组机械通气的天数、氧疗天数缩短[(9.5±6.2)d vs(7.0±5.4)d,(13.2±8.1)d vs(10.0±6.4)d],存活率由69.2％上升为87.0％,差异均具有显著性(P<0.05)。治疗组合并肺气漏发生率由32.7％下降为15.2％,呼吸机相关性肺炎由44.2％下降为23.9％,差异有显著性意义(P<0.05)。存活者中治疗组较对照组未合并BPD的比例由75.0％上升为92.5％,未合并颅内出血由77.8％上升为95.0％,同时未合并BPD和颅内出血的比例由58.3％上升为80.0％,其差异均有显著性意义(P<0.05)。结论：PS替代治疗RDS可以明显缩短机械通气的天数、氧疗时间及提高存活率,降低气漏及呼吸机相关性肺炎发生率,降怠浪存活者中脑损害和肺损伤的发生率,提高了早产儿的生存质量。 [中国当代儿科杂志,2003,5(1):31-34]     

肺表面活性物质在儿童急性呼吸窘迫综合征的应用

肺表面活性物质(pulmonary surfactant,PS)是由Ⅱ型肺泡上皮细胞合成分泌的脂质蛋白混合物,主要功能是降低肺泡气-液界面表面张力.急性呼吸窘迫综合征(acute respiratory distress syndrome,ARDS)时多种原因引起PS的量和质出现变化,导致其功能异常.外源性PS替代治疗可以改善儿童ARDS肺部气体交换,但提高存活率作用不肯定.这可能与ARDS病因、PS成分、给药方法、时机、剂量及次数等不同有关.目前不推荐PS作为儿童ARDS的常规治疗方法.     

肺表面活性物质对不同胎龄呼吸窘迫综合征新生儿的疗效

目的 探讨肺表面活性物质(PS)对不同胎龄儿呼吸窘迫综合征(RDS)的疗效差异.方法 选择胎龄28～39周,出生体质量760～3 240 g,经PS治疗的RDS患儿67例.早期组:胎龄28～30周的早期早产儿18例;中期组:胎龄31～33周的中期早产儿28例;晚期组:胎龄34周以上的晚期早产儿和足月儿21例.比较3组PS治疗时RDS的重症程度、PS开始使用时间、第1次使用剂量、总剂量、重复使用例数、氧疗时间、最高吸氧体积分数(FiO2)、机械通气时间等指标.结果 PS治疗时早期组和中期组轻度RDS例数明显多于晚期组(Pa＜0.05).中期组和晚期组重度RDS例数明显多于早期组(Pa＜0.05),PS开始使用时间晚期组明显晚于早、中期组(Pa＜0.05).第1次使用剂量早期组明显多于中、晚期组(Pa＜0.05).使用总剂量和重复使用例数各组间均无统计学差异(Pa＞0.05).机械通气时间早、晚期组明显多于中期组(P=0.040);最高FiO2以晚期组最高(P=0.006).结论 早期早产儿RDS病情轻、开始PS治疗时间早、剂量足,但需氧疗和机械通气时间长;晚期早产儿和足月儿RDS病情危重、开始PS治疗时间晚、剂量不足、需氧疗和机械通气时间长.对晚期早产儿和足月儿RDS治疗应尽早、足量使用PS.     

脊髓灰质炎样综合征的临床特征与诊断要点

目的探讨脊髓灰质炎样综合征(PS)的临床特点与诊断要点。方法对15例PS患儿的临床资料包括神经系统表现、实验室及辅助检查、诊断及误诊原因、治疗和转归进行分析。结果15例PS患儿平均起病年龄3.3岁,11例(73%)发病前1~2周或发病时有急性上呼吸道感染或腹泻病史,均表现为肢体急性迟缓性瘫痪,单肢受累者12例(80%)。血清学检查发现柯萨奇病毒IgM阳性4例,EB病毒、单纯疱疹病毒、支原体IgM阳性各1例。患儿肌电图检查均呈神经源性损害肌电图。4例住院期间肌力提高一个等级。结论本征常累及5岁以下儿童,发病前1~2周或发病时多有呼吸道或消化道感染病史,呈急性弛缓性瘫痪,以单肢受累多见,病原多为肠道病毒,肌电图检查有助于明确诊断。     

Noonan syndrome with double-chambered right ventricle

The association of Noonan syndrome and a double-chambered right ventricle has not been reported previously in the medical literature. We report two patients with Noonan syndrome associated with pulmonary valve stenosis and double-chambered right ventricle due to anomalous hypertrophied muscle bundles. Pulmonary valve stenosis was operated on. However, hypertrophied muscle bundles were not resected, as they caused no obstruction to blood passage. Postoperative follow-up examinations revealed no symptoms. In conclusion, in those with Noonan syndrome there may be anomalous muscle bundles in the right ventricular cavity. It may not be necessary to resect them if they do not obstruct the right ventricular outflow tract.     

早期应用泡式鼻持续气道正压通气8 cmH2O和5 cmH2O联合肺表面活性物质防治新生儿呼吸窘迫综合征的临床研究

摘要 目的 探讨早期应用泡式鼻持续气道正压通气（B-NCPAP）8 cmH2O（1 cmH2O＝0.098 kPa）与肺表面活性物质（PS）+ B-NCPAP 5 cmH2O防治NRDS的疗效差异。方法 B-NCPAP 8组选取2007年4月30日至2008年8月30日在中山大学附属第三医院分娩且生后30 min内收入新生儿病房的早产儿,胎龄27~37周、羊水泡沫实验（-）~（＋）,生后30 min内应用B-NCPAP 8 cmH2O,分为B-NCPAP 8预防(治疗前未出现呼吸窘迫)和B-NCPAP 8治疗亚组(治疗前出现呼吸窘迫,胸部X线检查提示存在不同程度NRDS改变)。PS+B-NCPAP 5组选取为胎龄27~37周、羊水泡沫实验（-）~（＋）的早产儿,生后6 h内气管内注入PS并给予B-NCPAP 5 cmH2O,分为PS+B-NCPAP 5预防及PS+B-NCPAP 5治疗亚组。结果 研究期间,B-NCPAP 8预防和治疗亚组分别纳入48和25例;PS+B-NCPAP 5预防和治疗亚组分别纳入36和22例。B-NCPAP 8预防亚组41/48例（85.4％）未出现呼吸窘迫;7例在应用B-NCPAP 4～6 h后出现呼吸窘迫,其中5例为轻度NRDS,继续治疗8 h后症状逐渐改善,2例为重度NRDS,在生后8～10 h行气管插管注入PS并改用机械通气后存活;应用成功率为95.8％（46/48例） 。PS+B-NCPAP 5预防亚组32/36例（88.9％）未出现呼吸窘迫;4例在应用B-NCPAP 4～6 h后出现呼吸窘迫,其中3例为轻度NRDS,继续治疗后症状逐渐改善,应用成功率为97.2％（35/36例）;1/36例（2.8％）为中度NRDS,改用机械通气后死亡。B-NCPAP 8治疗亚组24/25例（96.0％）治疗2 h后血气分析指标改善,1例改用机械通气。PS+B-NCPAP 5治疗亚组18/22例（81.8％）治疗8 h后临床症状及血气指标均改善,1/22例（4.5％）死亡。B NCPAP 8与PS+B NCPAP 5预防及治疗亚组在防治NRDS的疗效上差异无统计学意义,但B NCPAP 8预防及治疗亚组的肺部感染发生率、住院时间及住院费用较低（P均<0.05）。结论 早期应用B-NCPAP 8 cmH2O与PS+B-NCPAP 5 cmH2O预防及治疗NRDS的疗效相近,但前者能减少肺部并发症发生,缩短住院时间,减少住院费用。     

不同机械通气方式联合肺表面活性物质对新生儿急性肺损伤/急性呼吸窘迫综合征疗效比较

目的 比较高频振荡通气+肺表面活性物质 （HFOV+PS）、常频机械通气+肺表面活性物质 （CMV+PS）、常频机械通气 （CMV）3种治疗方式对新生儿急性肺损伤/急性呼吸窘迫综合征 （ALI/ARDS）的临床疗效。方法 纳入ALI/ARDS新生儿136例 （ALI73例,ARDS63例）,其中HFOV+PS组45例,CMV+PS组53例,CMV组38例,前两组应用肺表面活性物质气管内滴入 （70~100mg/kg）。分别检测机械通气0h、12h、24h、48h、72h的PaO2、PaCO2、PaO2/FiO2、氧合指数 （OI）、呼吸指数 （RI）。结果 机械通气12h、24h、48h时HFOV+PS组的PaO2高于CMV+PS组和CMV组,PaCO2低于CMV+PS组和CMV组 （P < 0.05）;在机械通气12h、24h、48h、72h时HFOV+PS组PaO2/FiO2高于CMV+PS组和CMV组,OI、RI低于CMV+PS组和CMV组 （P < 0.05）;HFOV+PS组机械通气时间、用氧时间均低于CMV+PS组和CMV组 （P < 0.05）;3组气漏、颅内出血发生率及治愈率比较差异无统计学意义。结论 与单纯CMV以及CMV联合PS治疗相比,HFOV联合PS更可改善ALI/ARDS新生儿的肺功能,缩短通气时间及用氧时间,且不增加并发症的发生。     

Intussusception nephrosis and Drash syndrome

A 6-month-old female infant presented with intussusception. Post-operatively she was noted to have nephrotic syndrome. The oedematous bowel wall may have been the cause of the intussusception and this has not been previously described. In addition her karyotype was XY suggesting her nephropathy was associated with Drash syndrome.