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Transient generalized proximal tubular dysfunction in an infant with a urinary tract infection: the effect of maternal infliximab therapy? 一过性全身性尿路感染婴儿近端小管功能障碍:母亲英夫利昔单抗治疗的效果?
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0050
M. Schreuder, H. de Jong, E. C. van der Kuur, E. Cornelissen
Abstract Objectives Urinary tract infections (UTIs) are common in childhood. Distal tubular dysfunction during a UTI is relatively common, but proximal tubular involvement is a unique feature in humans. Case presentation We present the first case of transient generalized proximal tubular dysfunction (renal Fanconi syndrome) in an infant with an UTI. During pregnancy, his mother was treated for Crohn’s disease with infliximab (last dose at 28 weeks of gestation). He presented at the age of six weeks with a reduced intake, and was found to have amino-aciduria, glucosuria, and urinary loss of potassium, bicarbonate and low-molecular-weight proteins. Within a few weeks after antibiotic treatment for the UTI, no proximal tubular disorder remained and the boy is doing well. Conclusions We hypothesize that the inflammatory response caused by the UTI was more profoundly present due to the maternal infliximab therapy, and thereby included not only the distal but also the proximal tubules.
摘要目的尿路感染是儿童期常见的疾病。尿路感染期间远端肾小管功能障碍相对常见,但近端肾小管受累是人类独有的特征。病例介绍:我们报告了一例婴幼儿尿路感染的暂时性全身性近端肾小管功能障碍(肾范可尼综合征)。在怀孕期间,他的母亲用英夫利昔单抗治疗克罗恩病(妊娠28周时最后一次给药)。他在6周大时出现摄入量减少,并发现有氨基酸尿症、糖尿症、尿中钾、碳酸氢盐和低分子量蛋白质的丢失。在对尿路感染进行抗生素治疗后的几周内,没有近端肾小管紊乱,男孩的情况很好。结论我们推测,由于母亲的英夫利昔单抗治疗,尿路感染引起的炎症反应更为深刻,因此不仅包括远端小管,也包括近端小管。
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引用次数: 1
Management of a patient in the state of total occlusion of aorta due to Takayasu arteritis in preconceptional and pregnancy period 1例孕前及妊娠期高松动脉炎致主动脉全闭塞患者的处理
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2021-0015
Emre Günakan, T. Akay, S. Esin
Abstract Objectives Total aortic occlusion is a severe complication of Takayasu arteritis (TAK). Pregnancy follow-up in the state of total aortic occlusion due to TAK has not been reported before. Case presentation A 35 year-old nulliparous woman with total aortic occlusion in the distal aorta due to TAK, admitted with pregnancy desire. She had developed a collateral vessel system which has maintained the lower body circulation. She was informed about the potential risks after an evaluation and she admitted to our clinic at the seventh week of pregnancy, and acetylsalicylic acid was prescribed. At 20th gestational week anomaly screening was in normal limits although the uterine artery Doppler had lower S/D, PI and RI values. She was followed-up regularly in every two weeks. Vascular examination was performed by using an ankle brachial index (ABI) by duplex ultrasound. At 20th gestational week ankle brachial index score was 0.8–0.9 which indicates mild disease. Around 28th gestational week her claudication got worse again and ABI was in moderate level (0.5–0.8) and low molecular weight heparin was started. Until 37th gestational week her disease was stable, ABI was above 0.5, her blood pressure was in normal limits, no vascular complication occurred and the baby’s growth percentile was at 25th centile. At 37th gestational week a 2,640 g baby was delivered. Patient was discharged without any complications at third post-operative day. Conclusions Complicated TAK patients may have good obstetric outcomes with a multidisciplinary approach in experienced tertiary centers.
【摘要】目的全主动脉阻塞是Takayasu动脉炎(Takayasu arteritis, TAK)的严重并发症。完全性主动脉阻塞的妊娠随访尚未见报道。病例介绍一名35岁未生育妇女,因TAK导致远端主动脉全闭塞,有怀孕愿望入院。她已发展出维持下半身循环的侧支血管系统。在评估后,她被告知潜在的风险,并在怀孕第七周入院,并开了乙酰水杨酸。在妊娠第20周异常筛查在正常范围内,尽管子宫动脉多普勒有较低的S/D, PI和RI值。她每两周定期随访一次。血管检查采用双工超声踝肱指数(ABI)。妊娠第20周时,踝关节肱指数评分为0.8 ~ 0.9,提示病情轻微。孕28周左右,跛行再次加重,ABI处于中等水平(0.5 ~ 0.8),开始使用低分子肝素治疗。妊娠37周病情稳定,ABI > 0.5,血压正常,未发生血管并发症,婴儿生长百分位数25。在妊娠第37周,一个体重2640克的婴儿出生了。术后第三天无并发症出院。结论复杂TAK患者在经验丰富的三级医院采用多学科方法可获得良好的产科结局。
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引用次数: 0
Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms 合并氧化磷酸化缺陷3和亚甲基四氢叶酸还原酶多态性家族的产科史
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0085
M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç
Abstract Objectives Recurrent pregnancy loss (RPL) is a devastating complication of pregnancy with various etiologic backgrounds. Case presentation We present a case of combined oxidative phosphorylation deficiency 3 (COXPD3) carrier pregnant woman with Methylenetetrahydrofolate reductase (MTHFR) polymorphisms. She had five pregnancy losses and a postpartum death due to COXPD3. The patient was admitted to our clinic for the first time at her seventh pregnancy with oocyte donation. The patient was registered in a special antenatal care program and delivered a healthy baby at term. Her eighth pregnancy was terminated due to COXPD3 which was prenatally diagnosed. Conclusions Comprehensive and individualized approaches are necessary in RPL cases to obtain optimal outcomes.
目的复发性妊娠丢失(RPL)是一种具有多种病因背景的毁灭性妊娠并发症。我们报告了一例合并氧化磷酸化缺陷3 (COXPD3)携带孕妇与亚甲基四氢叶酸还原酶(MTHFR)多态性。由于COXPD3,她有五次流产和一次产后死亡。该患者于第七次怀孕并捐赠卵母细胞时首次入住我们的诊所。患者在一个特殊的产前保健项目中登记,并在足月生下了一个健康的婴儿。她的第八次妊娠因产前诊断为COXPD3而终止。结论RPL患者需采取综合、个体化治疗,以获得最佳治疗效果。
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引用次数: 0
Fetal MRI assessment of head & neck vascular malformation in predicting outcome of EXIT-to-airway procedure 胎儿MRI评估头颈部血管畸形预测出口-气道手术结果
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0063
Azzam Baseri Huddin, H. Abu Hassan, Amilia Afzan Mohd Jamil, Khadijah Mohd Nor
Abstract Objectives The objective of this clinical case report is to highlight the MRI features and staging system which may guide clinicians in determining further management. Case presentation Three different cases with fetal head and neck vascular malformation diagnosed during prenatal screening were presented. MRI demonstrates large cystic neck masses which may compromise fetal airway during delivery. Thus, this required multidisciplinary team management among obstetricians, otolaryngologists, pediatricians, anesthesiologists, and radiologists. A decision for complex birth delivery through the cesarean section aided with EXIT-to-airway procedure was made. Each of these procedures demonstrates the different challenges and outcomes of the neonates which correlated with the characterization and staging based on prenatal MRI. Conclusions EXIT-to-airway procedure in head and neck malformation may be beneficial in transiting complicated and potentially catastrophic delivery situations to a more controlled environment. However, it also needs to align with prenatal MRI evaluation, which provides a more objective assessment guide for the clinicians.
摘要目的本临床病例报告的目的是强调MRI特征和分期系统,可以指导临床医生确定进一步的管理。本文介绍了三例产前筛查诊断的胎儿头颈部血管畸形。MRI显示巨大的囊性颈部肿块,可能在分娩时危及胎儿气道。因此,这需要产科医生、耳鼻喉科医生、儿科医生、麻醉科医生和放射科医生之间的多学科团队管理。我们决定通过剖宫产辅助出口-气道手术进行复杂分娩。每一种程序都显示了新生儿的不同挑战和结果,这些挑战和结果与基于产前MRI的特征和分期相关。结论头颈部畸形的出口-气道手术可能有助于将复杂和潜在的灾难性分娩情况转移到更可控的环境中。但也需要与产前MRI评估相结合,为临床医生提供更客观的评估指导。
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引用次数: 0
Postpartum fibroid degeneration associated with elevated procalcitonin levels 产后肌瘤变性与降钙素原水平升高有关
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0079
Meera Thakkar, Fawzi Kaawar, C. Dinglas
Abstract Objectives To describe a novel presentation of severely elevated procalcitonin (PCT) levels associated with postpartum fibroid degeneration. Case presentation We report a case of a 34-year-old woman with multiple large fibroids who was found to have fevers and a severely elevated PCT level of 34.03 ng/mL 2 days postpartum. MRI revealed carneous degeneration of her fibroids, and other etiologies such as infection were ruled out. She was successfully treated with the use of intravenous non-steroidal anti-inflammatory drugs and antibiotics, as a precaution. This report indicates procalcitonin may be elevated secondary to the inflammatory state caused by degenerating fibroids. Informed consent was obtained from all individuals included in this study. Conclusions Uterine leiomyomas, or fibroids, are tumors of the female reproductive tract affecting anywhere from 20–40% of women. One known complication of fibroids is degeneration, when the fibroid can infarct due to a decrease in blood supply. This can cause an inflammatory state with the release of multiple inflammatory markers. During pregnancy, routine markers such as white blood cell counts may be unreliable. Other markers such as procalcitonin are not well-studied in pregnancy. This case provides practitioners an example where the marker procalcitonin can be used to more accurately assess an inflammatory state during pregnancy. It also provides alterative diagnoses in the workup of postpartum fever.
摘要目的描述严重升高的降钙素原(PCT)水平与产后肌瘤变性的新表现。我们报告一例34岁女性多发性大肌瘤,产后2天发现发烧,PCT水平严重升高34.03 ng/mL。MRI显示她的肌瘤结节变性,其他病因如感染被排除。作为预防措施,她成功地接受了静脉注射非甾体抗炎药和抗生素的治疗。本报告提示降钙素原可能继发于肌瘤变性引起的炎症状态。本研究中所有受试者均获得了知情同意。结论子宫平滑肌瘤是一种发生在女性生殖道的肿瘤,发病率在20-40%之间。肌瘤的一个已知并发症是变性,当肌瘤可梗死,由于血液供应减少。这可以引起炎症状态,释放多种炎症标志物。在怀孕期间,白细胞计数等常规指标可能不可靠。其他标志物,如降钙素原,在怀孕期间还没有得到很好的研究。这种情况下,提供从业人员的一个例子,标记原降钙素可用于更准确地评估妊娠期间的炎症状态。它也为产后发热的检查提供了替代诊断。
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引用次数: 0
Respiratory decompensation due to COVID-19 requiring postpartum extracorporeal membrane oxygenation COVID-19引起的呼吸失代偿需要产后体外膜氧合
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0062
S. Willson, Richard L Dubois, Briana Short, C. Agerstrand, D. Skupski, A. Dayal
Abstract Objectives The Coronavirus disease 2019 (COVID-19) pandemic has rapidly spread since its emergence in December 2019, and has been associated with severe morbidity and mortality. This report includes an in-depth discussion on the unique challenges that the obstetrical population provides when considering optimal management strategy. Case presentation We describe our approach to a preterm patient with high clinical suspicion for COVID-19 whose condition turned critical in the postpartum state. Conclusions Differences in physiology during pregnancy, and goals for reducing both maternal and fetal risks, provide challenges when considering intensive care management, delivery timing, and method of delivery.
摘要目的2019冠状病毒病(COVID-19)大流行自2019年12月出现以来,传播迅速,发病率和死亡率高。本报告包括一个深入讨论的独特挑战,产科人口提供时,考虑最佳的管理策略。我们描述了我们对一位临床高度怀疑COVID-19的早产患者的治疗方法,该患者的病情在产后转为危重。结论妊娠期生理的差异,以及降低母胎风险的目标,在考虑重症监护管理、分娩时机和分娩方法时提出了挑战。
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引用次数: 0
Thrombospondin domain1-related congenital chylothorax in an infant with maple syrup urine disease: a challenging case 新生儿伴枫糖尿病的血栓反应蛋白结构域1相关先天性乳糜胸:一个具有挑战性的病例
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2021-0030
H. Al Mandhari, Nidaa Al Naamany, Asad ur Rahman, Hussain Al-Kindy, Tabinda Naz Qureshi, K. Al-Thihli
Abstract Objectives Congenital chylothorax is a rare entity with various etiologies ranging from anatomical to genetic causes. If associated with non-immune hydrops fetalis mortality rates can reach up to 98%. Treatment is challenging and mostly supportive, with no standard guidelines. Case presentation We describe the unique and challenging course of a late preterm infant with non-immune hydrops fetalis (NIHF), and recurrent chylothorax attributed to homozygous mutations in thrombospondin domain1 (THSD1) gene. The infant was also affected with maple syrup urine disease (MSUD), which further complicated the clinical course. Treatment was supportive by means of chest tubes, intubation, mechanical ventilation, and eventually he was tracheostomized and discharged home on home BiPAP ventilation and required prolonged use of octreotide to prevent re-accumulation of chylothorax. Conclusions THSD1 gene has a role in vascular permeability and its mutation in our patient caused congenital chylothorax and NIHF and is also associated with other features such as vascular malformations.
摘要目的先天性乳糜胸是一种罕见的疾病,其病因从解剖学到遗传学都有。如果伴有非免疫性水肿,胎儿死亡率可高达98%。治疗是具有挑战性的,主要是支持性的,没有标准的指导方针。我们描述了一个独特的和具有挑战性的过程,晚期早产儿与非免疫性水肿胎儿(NIHF)和复发乳糜胸归因于血栓反应蛋白域1 (THSD1)基因纯合突变。患儿还合并枫糖浆尿病(MSUD),使临床病程进一步复杂化。通过胸管、插管、机械通气等支持治疗,最终患者气管造口,使用家用BiPAP通气出院,并需要长期使用奥曲肽以防止乳糜胸再次积聚。结论本例先天性乳糜胸、NIHF患者的血管通透性与THSD1基因有关,THSD1基因突变与血管畸形等其他特征有关。
{"title":"Thrombospondin domain1-related congenital chylothorax in an infant with maple syrup urine disease: a challenging case","authors":"H. Al Mandhari, Nidaa Al Naamany, Asad ur Rahman, Hussain Al-Kindy, Tabinda Naz Qureshi, K. Al-Thihli","doi":"10.1515/crpm-2021-0030","DOIUrl":"https://doi.org/10.1515/crpm-2021-0030","url":null,"abstract":"Abstract Objectives Congenital chylothorax is a rare entity with various etiologies ranging from anatomical to genetic causes. If associated with non-immune hydrops fetalis mortality rates can reach up to 98%. Treatment is challenging and mostly supportive, with no standard guidelines. Case presentation We describe the unique and challenging course of a late preterm infant with non-immune hydrops fetalis (NIHF), and recurrent chylothorax attributed to homozygous mutations in thrombospondin domain1 (THSD1) gene. The infant was also affected with maple syrup urine disease (MSUD), which further complicated the clinical course. Treatment was supportive by means of chest tubes, intubation, mechanical ventilation, and eventually he was tracheostomized and discharged home on home BiPAP ventilation and required prolonged use of octreotide to prevent re-accumulation of chylothorax. Conclusions THSD1 gene has a role in vascular permeability and its mutation in our patient caused congenital chylothorax and NIHF and is also associated with other features such as vascular malformations.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79897829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Asymptomatic severe laryngotracheoesophageal cleft (LTEC) in a preterm newborn 早产儿无症状严重喉气管食管裂(LTEC)一例
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0091
S. M. Menon, J. Chandramati, Ashwin Prabhu, Sasidharan Ponthenkandath
Abstract Objectives We are presenting a unique case of severe laryngo-tracheo-esophageal cleft in a preterm infant who remained asymptomatic for several days after birth. Laryngo-tracheo-esophageal cleft (LTEC) is a rare congenital anomaly, representing approximately 0.2–1.5% of congenital laryngeal malformations [Merei JM, Hutson JM. Embryogenesis of tracheo esophageal anomalies: a review. Pediatr Surg Int 2002;18:319–26]. There is an abnormal, posterior, sagittal communication between the larynx and the pharynx, which may extend downward between the trachea and the esophagus. Case presentation We report a case of LTEC in a preterm newborn whose mother had severe polyhydramnios. A preterm 34-week gestation female newborn was born in our institution whose mother had severe polyhydramnios during third trimester. She was postnatally diagnosed to have type 3 LTEC by the 19th day after birth. In the presence of a large common tracheo-esophageal cavity, the baby did not develop aspiration or respiratory distress despite feeding from birth. Conclusions This case report illustrates the many factors and the probable mechanisms involved in preventing aspiration.
摘要目的我们提出了一个独特的情况下,严重的喉-气管-食管裂在一个早产儿谁仍然无症状数天后出生。喉-气管-食道裂(LTEC)是一种罕见的先天性异常,约占先天性喉畸形的0.2% - 1.5% [Merei JM, Hutson JM]。气管食管异常的胚胎发生研究进展。中华儿科杂志[j]; 2002;18(3):319 - 326。喉和咽之间有一个不正常的后矢状交通,它可能向下延伸到气管和食道之间。我们报告一例LTEC在早产新生儿的母亲有严重羊水过多。本院出生一名妊娠34周的早产女婴,其母亲在妊娠晚期患有严重羊水过多。出生后第19天,她被诊断为3型LTEC。在存在一个大的常见气管-食管腔的情况下,尽管从出生开始喂养,婴儿没有发生误吸或呼吸窘迫。结论本病例报告阐述了预防误吸的多种因素和可能的机制。
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引用次数: 0
Subcutaneous fat necrosis of the newborn and nephrolithiasis 新生儿皮下脂肪坏死和肾结石
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0101
Nicole A. Karikari, Fnu Nutan
Abstract Objectives Subcutaneous fat necrosis of the newborn (SCFN) is a rare panniculitis that can affect newborn patients who have experienced perinatal stress, hypoxia, or hypothermia. Risk factors include gestational diabetes and pre-eclampsia. This condition is usually self-limiting; however, it can lead to severe complications, including hypercalcemia. After diagnosis, it is important to monitor calcium levels. There is no current standard for how frequently these levels should be monitored. Case presentation We present a full-term African American male with multiple risk factors, who was diagnosed with SCFN. The patient’s hypercalcemia secondary to SCFN led to renal complications. Conclusions This case highlights the importance of early and frequent monitoring of calcium levels in patients with SCFN.
摘要目的新生儿皮下脂肪坏死(SCFN)是一种罕见的全身炎,可影响围产期应激、缺氧或体温过低的新生儿。危险因素包括妊娠期糖尿病和先兆子痫。这种情况通常是自限性的;然而,它会导致严重的并发症,包括高钙血症。诊断后,监测钙水平是很重要的。目前还没有关于监测这些水平的频率的标准。我们报告了一位患有多种危险因素的足月非裔美国男性,他被诊断为SCFN。患者继发于SCFN的高钙血症导致肾脏并发症。结论:本病例强调了早期和频繁监测SCFN患者钙水平的重要性。
{"title":"Subcutaneous fat necrosis of the newborn and nephrolithiasis","authors":"Nicole A. Karikari, Fnu Nutan","doi":"10.1515/crpm-2020-0101","DOIUrl":"https://doi.org/10.1515/crpm-2020-0101","url":null,"abstract":"Abstract Objectives Subcutaneous fat necrosis of the newborn (SCFN) is a rare panniculitis that can affect newborn patients who have experienced perinatal stress, hypoxia, or hypothermia. Risk factors include gestational diabetes and pre-eclampsia. This condition is usually self-limiting; however, it can lead to severe complications, including hypercalcemia. After diagnosis, it is important to monitor calcium levels. There is no current standard for how frequently these levels should be monitored. Case presentation We present a full-term African American male with multiple risk factors, who was diagnosed with SCFN. The patient’s hypercalcemia secondary to SCFN led to renal complications. Conclusions This case highlights the importance of early and frequent monitoring of calcium levels in patients with SCFN.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85012827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spontaneous resolution of fetal ascites secondary to gastrointestinal abnormality 继发于胃肠道异常的胎儿腹水的自然解决
IF 0.1 Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0044
Alison Wiles, Melissa Yannetti, C. Dinglas
Abstract Objectives Isolated fetal ascites carries an uncertain prognosis and broad differential diagnosis. When detected on prenatal sonography, a thorough evaluation is warranted to exclude development of hydrops and search for an underlying condition. While gastrointestinal abnormalities account for approximately 20% of cases of fetal ascites, surgical correction is commonly required postnatally. While there have been reports of isolated fetal ascites resolving in utero, spontaneous resolution of the causative gastrointestinal abnormality is unusual. Case presentation We report a case of a multiparous 33-year-old found to have moderate fetal ascites and a complex fetal abdominal mass near the small bowel detected by ultrasound at 32 weeks with spontaneous resolution of both ascites and mass by 37 weeks. Following the delivery of a normal neonate, we suspect the mass and ascites to have been produced by a small bowel rupture resulting in meconium peritonitis. Conclusions When fetal ascites with late gestational onset has spontaneous resolution in utero and hydrops never develops, there is generally a favorable prognosis and normal neonatal outcome.
【摘要】目的孤立性胎儿腹水预后不确定,需要广泛的鉴别诊断。当在产前超声检查中发现,彻底的评估是必要的,以排除积水的发展和寻找潜在的条件。虽然胃肠道异常约占胎儿腹水病例的20%,但通常需要术后手术矫正。虽然有报道孤立的胎儿腹水在子宫内解决,自发解决的致病胃肠道异常是罕见的。我们报告了一例33岁的多胎妇女,在32周时超声检测到中度胎儿腹水和小肠附近复杂的胎儿腹部肿块,在37周时腹水和肿块自发消退。正常新生儿出生后,我们怀疑肿块和腹水是由小肠破裂引起的胎便性腹膜炎。结论妊娠晚期腹水在子宫内自行消退,不发生积液,预后良好,新生儿结局正常。
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引用次数: 0
期刊
Case Reports in Perinatal Medicine
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