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":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":"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}
{"title":"Management of a patient in the state of total occlusion of aorta due to Takayasu arteritis in preconceptional and pregnancy period","authors":"Emre Günakan, T. Akay, S. Esin","doi":"10.1515/crpm-2021-0015","DOIUrl":"https://doi.org/10.1515/crpm-2021-0015","url":null,"abstract":"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.","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":"78690667","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}
M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç
{"title":"Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms","authors":"M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç","doi":"10.1515/crpm-2020-0085","DOIUrl":"https://doi.org/10.1515/crpm-2020-0085","url":null,"abstract":"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.","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":"86912276","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}
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":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":"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}
{"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":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":"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}
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":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":"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}
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":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}
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":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":"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}
{"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}
{"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":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":"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}