Case Reports in Perinatal Medicine最新文献

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Further insights into unusual acrania-exencephaly-anencephaly sequence caused by amniotic band – first trimester fetoscopic correlation with two- and three-dimensional ultrasound 进一步了解羊膜带-孕早期胎儿镜与二维和三维超声的相关性引起的不寻常的头-脑-无脑畸形序列
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2021-0023
J. Weichert, W. Sepulveda, M. Gembicki
{"title":"Further insights into unusual acrania-exencephaly-anencephaly sequence caused by amniotic band – first trimester fetoscopic correlation with two- and three-dimensional ultrasound","authors":"J. Weichert, W. Sepulveda, M. Gembicki","doi":"10.1515/crpm-2021-0023","DOIUrl":"https://doi.org/10.1515/crpm-2021-0023","url":null,"abstract":"Abstract Objectives Antenatal detection of acrania-exencephaly-anencephaly (AEA) sequence beyond 10 completed weeks of gestation is usually straight-forward. An earlier detection and classification of the causative conditions prior to disaggregation of exposed dysplastic brain tissue remains challenging. Case presentation We present two- and three-dimensional ultrasound correlated with fetoscopic findings of an unusual type of neural tube defect at 11 gestational weeks caused by an amniotic constriction ring resulting in cystic degeneration of the developing skull. Conclusions By giving further illustrative insights into early defective brain development, this report confirms recent findings of an unusual subtype of acrania-exencephaly-anencephaly sequence suggesting early disruption of the developing brain, following an amniotic entrapment of the skull.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"30 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78029090","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: 1
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
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0050
M. Schreuder, H. de Jong, E. C. van der Kuur, E. Cornelissen
{"title":"Transient generalized proximal tubular dysfunction in an infant with a urinary tract infection: the effect of maternal infliximab therapy?","authors":"M. Schreuder, H. de Jong, E. C. van der Kuur, E. Cornelissen","doi":"10.1515/crpm-2020-0050","DOIUrl":"https://doi.org/10.1515/crpm-2020-0050","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"21 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87739662","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: 1
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
Case Reports in Perinatal Medicine 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
{"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":"9 1","pages":""},"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
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0091
S. M. Menon, J. Chandramati, Ashwin Prabhu, Sasidharan Ponthenkandath
{"title":"Asymptomatic severe laryngotracheoesophageal cleft (LTEC) in a preterm newborn","authors":"S. M. Menon, J. Chandramati, Ashwin Prabhu, Sasidharan Ponthenkandath","doi":"10.1515/crpm-2020-0091","DOIUrl":"https://doi.org/10.1515/crpm-2020-0091","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"30 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91329103","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
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
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0062
S. Willson, Richard L Dubois, Briana Short, C. Agerstrand, D. Skupski, A. Dayal
{"title":"Respiratory decompensation due to COVID-19 requiring postpartum extracorporeal membrane oxygenation","authors":"S. Willson, Richard L Dubois, Briana Short, C. Agerstrand, D. Skupski, A. Dayal","doi":"10.1515/crpm-2020-0062","DOIUrl":"https://doi.org/10.1515/crpm-2020-0062","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"103 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82431863","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
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
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0063
Azzam Baseri Huddin, H. Abu Hassan, Amilia Afzan Mohd Jamil, Khadijah Mohd Nor
{"title":"Fetal MRI assessment of head & neck vascular malformation in predicting outcome of EXIT-to-airway procedure","authors":"Azzam Baseri Huddin, H. Abu Hassan, Amilia Afzan Mohd Jamil, Khadijah Mohd Nor","doi":"10.1515/crpm-2020-0063","DOIUrl":"https://doi.org/10.1515/crpm-2020-0063","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81623355","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
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
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0079
Meera Thakkar, Fawzi Kaawar, C. Dinglas
{"title":"Postpartum fibroid degeneration associated with elevated procalcitonin levels","authors":"Meera Thakkar, Fawzi Kaawar, C. Dinglas","doi":"10.1515/crpm-2020-0079","DOIUrl":"https://doi.org/10.1515/crpm-2020-0079","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"61 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87036968","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
Subcutaneous fat necrosis of the newborn and nephrolithiasis 新生儿皮下脂肪坏死和肾结石
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0101
Nicole A. Karikari, Fnu Nutan
{"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":"42 1","pages":""},"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
Transient congenital Horner syndrome and multiple peripheral nerve injury: a scarcely reported combination in birth trauma 短暂性先天性霍纳综合征和多发性周围神经损伤:一种罕见的出生创伤合并报道
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2021-0025
Marina Ramos Pérez, Pedro Cabrera Vega, L. Urquía Martí, F. García-Muñoz Rodrigo
{"title":"Transient congenital Horner syndrome and multiple peripheral nerve injury: a scarcely reported combination in birth trauma","authors":"Marina Ramos Pérez, Pedro Cabrera Vega, L. Urquía Martí, F. García-Muñoz Rodrigo","doi":"10.1515/crpm-2021-0025","DOIUrl":"https://doi.org/10.1515/crpm-2021-0025","url":null,"abstract":"Abstract Objectives To describe an infrequent association of multiple injuries in relation to perinatal trauma and the challenge of clinical examination for proper diagnosis. Case presentation A male newborn was born at 41 weeks gestational age to a multipara diabetic mother, by forceps. Apgar 8/9. Upon admission, he exhibited axial hypotonia, right brachial paresis, a large left parietal cephalohematoma, but no skull fractures or orbital injuries. He also showed ocular misalignment with marked esotropia of the right eye, ptosis and mild anisocoria, suggesting right Horner syndrome, and left facial palsy. During the oculo-cephalic reflex examination he exhibited a normal adduction and impaired abduction of the right eye. The cranial MRI showed an extensive left parietal cephalohematoma, with internal foci of recent bleeding, and supra and infratentorial laminar subdural hematomas. No lesions were evidenced in the cavernous sinuses. The recovery of extra and intraocular motility at one month of life in our patient highlighted the transitory nature of the lesions and was reassuring for the parents. Conclusions This case highlights the importance of a detailed clinical examination in the initial evaluation of a newborn at neurological risk after birth trauma. The association of sixth cranial nerve palsy, Horner syndrome, facial palsy, and brachial plexus injury have been scarcely referred in this context and, if not adequately interpreted, might suggest erroneous diagnoses with very different prognoses.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"74 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80892486","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
Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0044
Alison Wiles, Melissa Yannetti, C. Dinglas
{"title":"Spontaneous resolution of fetal ascites secondary to gastrointestinal abnormality","authors":"Alison Wiles, Melissa Yannetti, C. Dinglas","doi":"10.1515/crpm-2020-0044","DOIUrl":"https://doi.org/10.1515/crpm-2020-0044","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"124 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87971306","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
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