Natascha Pramhofer, S. Sailer, M. M. Nöhammer, Bernhard Csillag, S. Kargl, G. Wiesinger-Eidenberger
Abstract Objectives Peripherally inserted central catheters (PICC) are used in the neonatal intensive care unit (NICU) setting for medication and nutrition administration. PICCs are easy to place and may remain inserted up to several weeks. Serious complications are rare. Cases of infection, dysfunction, thrombosis, malposition into other vessels, catheter migration, vessel erosion, perforation into pleura, pericardium, abdomen and even into the epidural space with extravasation have been reported [1, 2]. Case presentation We present the case of a preterm infant with a right leg inserted PICC with the tip supposedly being placed in the external iliac vein with further catheter migration into the abdominal wall during the course of treatment. Conclusions Our patient developed extravasation of lipid infusion, which was initially misinterpreted as an abscess due to signs of local inflammation.
{"title":"Parenteral nutrition extravasation into the abdominal wall mimicking an abscess","authors":"Natascha Pramhofer, S. Sailer, M. M. Nöhammer, Bernhard Csillag, S. Kargl, G. Wiesinger-Eidenberger","doi":"10.1515/crpm-2021-0021","DOIUrl":"https://doi.org/10.1515/crpm-2021-0021","url":null,"abstract":"Abstract Objectives Peripherally inserted central catheters (PICC) are used in the neonatal intensive care unit (NICU) setting for medication and nutrition administration. PICCs are easy to place and may remain inserted up to several weeks. Serious complications are rare. Cases of infection, dysfunction, thrombosis, malposition into other vessels, catheter migration, vessel erosion, perforation into pleura, pericardium, abdomen and even into the epidural space with extravasation have been reported [1, 2]. Case presentation We present the case of a preterm infant with a right leg inserted PICC with the tip supposedly being placed in the external iliac vein with further catheter migration into the abdominal wall during the course of treatment. Conclusions Our patient developed extravasation of lipid infusion, which was initially misinterpreted as an abscess due to signs of local inflammation.","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":"77953961","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}
Turkay Rzayev, Kıvılcım Karadeniz Cerit, N. Yıldız, H. Ozdemi̇r, A. Memişoğlu, H. Bilgen, E. Ozek
Abstract Objectives Birth injuries usually occur with two different mechanisms: trauma due to mechanic stress during labor and hypoxic-ischemic injury. Sometimes these two mechanisms can occur at the same time with a complex clinical picture. Case presentation The baby girl was born at 372/7 weeks after a prolonged second stage of labor, weighing 3,725 g, and was admitted to the Neonatal Intensive Care Unit with the diagnosis of hypoxic-ischemic encephalopathy. During follow up she developed multiorgan failure and severe anemia. On the third postnatal day, abdominal bleeding was detected. Laceration in the liver capsule was found and appeared to be the source of bleeding. Conclusions Abdominal bleeding secondary to mechanical laceration of the liver is hard to diagnose and may coexist with perinatal asphyxia.
{"title":"Liver laceration presented as intraabdominal bleeding in a newborn with hypoxic-ischemic encephalopathy","authors":"Turkay Rzayev, Kıvılcım Karadeniz Cerit, N. Yıldız, H. Ozdemi̇r, A. Memişoğlu, H. Bilgen, E. Ozek","doi":"10.1515/crpm-2021-0043","DOIUrl":"https://doi.org/10.1515/crpm-2021-0043","url":null,"abstract":"Abstract Objectives Birth injuries usually occur with two different mechanisms: trauma due to mechanic stress during labor and hypoxic-ischemic injury. Sometimes these two mechanisms can occur at the same time with a complex clinical picture. Case presentation The baby girl was born at 372/7 weeks after a prolonged second stage of labor, weighing 3,725 g, and was admitted to the Neonatal Intensive Care Unit with the diagnosis of hypoxic-ischemic encephalopathy. During follow up she developed multiorgan failure and severe anemia. On the third postnatal day, abdominal bleeding was detected. Laceration in the liver capsule was found and appeared to be the source of bleeding. Conclusions Abdominal bleeding secondary to mechanical laceration of the liver is hard to diagnose and may coexist with perinatal asphyxia.","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":"74679965","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}
Edin Medjedović, Z. Begić, E. Begić, A. Iglica, N. Begić, Amela Muftić, M. Stanojevic
Abstract Objectives The aim of this article was to present a case of premature fetal closure of the ductus arteriosus (DA) of unknown cause. Case presentation A 32-year-old pregnant woman came for the regular prenatal visit at 36 + 1 weeks of gestation (WG) at which oligohydramnios and premature closure of DA were revealed. Use of non-steroidal anti-inflammatory drugs was excluded by the history, although the patient had the symptoms of common cold 2 weeks before the check-up taking more than 1,000 mL of strong chamomile tea daily till the day before the prenatal visit. The patient was hospitalized at 36 + 1 weeks of gestation due to premature closure of DA and oligohydramnios (amniotic fluid index = 4.5/3), which was the indication to deliver the baby by cesarean section at 36 + 6 WG (birth weight was 2,830 g, birth length 49 cm and head circumference 34 cm, Apgar score at 1 and 5 min were 9/9). Postnatal course was uneventful, and postnatal echocardiography at 12 h of life revealed functionally closed DA and mild dysfunction of the right ventricle, which completely resolved after 7 days. The mother and the baby were discharged home healthy, and were doing well 3 months after delivery. Conclusions Although the cause of premature closure of DA in most of the cases will remain undetected, thorough history sometimes with unexpected events should be taken under the consideration as possible causative factor for premature DA closure, as was drinking of high quantities of chamomile tea in our case.
摘要目的报告一例原因不明的胎儿动脉导管(DA)过早闭合。一例32岁孕妇于妊娠36 + 1周(WG)就诊，发现羊水过少、羊膜囊过早闭合。病史排除非甾体类抗炎药的使用，但患者在体检前2周有普通感冒症状，每日服用浓甘菊茶1000 mL以上，直至产前检查前一天。患者于妊娠36 + 1周因DA过早闭合及羊水过少(羊水指数= 4.5/3)入院，符合36 + 6 WG剖宫产指征(出生体重2830 g，出生长49 cm，头围34 cm, 1、5 min Apgar评分9/9)。出生过程顺利，出生后12小时超声心动图显示DA功能性关闭，右心室轻度功能障碍，7天后完全消退。母亲和婴儿健康出院，分娩后3个月情况良好。结论虽然大多数病例DA过早闭合的原因尚不清楚，但应考虑透彻的病史，有时伴有意外事件，作为DA过早闭合的可能原因，如本病例饮用大量的洋甘菊茶。
{"title":"Premature fetal closure of the ductus arteriosus of unknown cause – could it be influenced by maternal consumption of large quantities of herbal chamomile tea – a case report?","authors":"Edin Medjedović, Z. Begić, E. Begić, A. Iglica, N. Begić, Amela Muftić, M. Stanojevic","doi":"10.1515/crpm-2021-0005","DOIUrl":"https://doi.org/10.1515/crpm-2021-0005","url":null,"abstract":"Abstract Objectives The aim of this article was to present a case of premature fetal closure of the ductus arteriosus (DA) of unknown cause. Case presentation A 32-year-old pregnant woman came for the regular prenatal visit at 36 + 1 weeks of gestation (WG) at which oligohydramnios and premature closure of DA were revealed. Use of non-steroidal anti-inflammatory drugs was excluded by the history, although the patient had the symptoms of common cold 2 weeks before the check-up taking more than 1,000 mL of strong chamomile tea daily till the day before the prenatal visit. The patient was hospitalized at 36 + 1 weeks of gestation due to premature closure of DA and oligohydramnios (amniotic fluid index = 4.5/3), which was the indication to deliver the baby by cesarean section at 36 + 6 WG (birth weight was 2,830 g, birth length 49 cm and head circumference 34 cm, Apgar score at 1 and 5 min were 9/9). Postnatal course was uneventful, and postnatal echocardiography at 12 h of life revealed functionally closed DA and mild dysfunction of the right ventricle, which completely resolved after 7 days. The mother and the baby were discharged home healthy, and were doing well 3 months after delivery. Conclusions Although the cause of premature closure of DA in most of the cases will remain undetected, thorough history sometimes with unexpected events should be taken under the consideration as possible causative factor for premature DA closure, as was drinking of high quantities of chamomile tea in our case.","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":"75488698","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}
Abstract Objectives X-linked ichthyosis (XLI) is a genetic disorder caused by a deficiency in steroid sulfatase, an enzyme which catalyzes a reaction in estrone synthesis. The disorder primarily manifests as dry, scaly skin which may be difficult to diagnose in extremely preterm infants, as the dermatological features may be falsely attributed to a normal variant of skin for this population. Case presentation In this case report, we describe a male with XLI, born at 24 weeks gestation, who had persistent dry, flaky and hyperpigmented skin. This case is notable for the age of diagnosis in an extremely premature infant; day of life 105. In addition, this infant experienced out of proportion bronchopulmonary symptoms that we postulate may be linked to the steroid sulfatase deficiency, as estrogen is a mediator of surfactant production. Conclusions This report underscores the need to potentially evaluate persistent dry, flaky skin in the preterm infant, as XLI may also impact long term neurodevelopmental outcomes.
{"title":"Extremely preterm infant with persistent peeling skin: X-linked ichthyosis imitates prematurity","authors":"Brigitte Burcescu, H. Brumberg, Shetal I Shah","doi":"10.1515/crpm-2021-0028","DOIUrl":"https://doi.org/10.1515/crpm-2021-0028","url":null,"abstract":"Abstract Objectives X-linked ichthyosis (XLI) is a genetic disorder caused by a deficiency in steroid sulfatase, an enzyme which catalyzes a reaction in estrone synthesis. The disorder primarily manifests as dry, scaly skin which may be difficult to diagnose in extremely preterm infants, as the dermatological features may be falsely attributed to a normal variant of skin for this population. Case presentation In this case report, we describe a male with XLI, born at 24 weeks gestation, who had persistent dry, flaky and hyperpigmented skin. This case is notable for the age of diagnosis in an extremely premature infant; day of life 105. In addition, this infant experienced out of proportion bronchopulmonary symptoms that we postulate may be linked to the steroid sulfatase deficiency, as estrogen is a mediator of surfactant production. Conclusions This report underscores the need to potentially evaluate persistent dry, flaky skin in the preterm infant, as XLI may also impact long term neurodevelopmental 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":"72405001","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}
Abstract Objectives Lower urinary tract obstruction (LUTO) has different etiologies. The most common form is posterior urethral valve (PUVs). It is a condition that can lead to end stage renal disease (ESRD) in later life and severe renal and pulmonary damage in utero. Those born alive may end up with residual kidney disease leading to life long morbidity or death. This condition can be diagnosed through prenatal ultrasound but because diagnosis is done late when kidney injury has already happened it does not guarantee healthy survival after birth. There are various treatments in utero and after birth but they all have their complications. In developing countries diagnosis is possible but in most cases pregnant women with fetuses with PUVs present very late in pregnancy. In utero interventions are in most cases not possible and the only way out is expectant management with serial ultrasound assessment until the fetus has achieved level of maturity at which time it is delivered and further postnatal evaluations and treatment given. This series is aimed at highlighting the prenatal ultrasound features of PUVs and the management challenges faced by physicians in developing countries. Case presentation The three cases were managed in three different hospitals. All the cases presented at different gestational ages and different levels of fetal affectation. Because of these, outcomes of management and prognosis of each case differ. Conclusions Fetal PUVs pose specific challenges in management because of late presentation and lack of resource for intervention even where cases present early with minimal renal damage.
{"title":"Posterior urethral valves (PUVs): prenatal ultrasound diagnosis and management difficulties: a review of three cases","authors":"L. Aliyu","doi":"10.1515/crpm-2020-0070","DOIUrl":"https://doi.org/10.1515/crpm-2020-0070","url":null,"abstract":"Abstract Objectives Lower urinary tract obstruction (LUTO) has different etiologies. The most common form is posterior urethral valve (PUVs). It is a condition that can lead to end stage renal disease (ESRD) in later life and severe renal and pulmonary damage in utero. Those born alive may end up with residual kidney disease leading to life long morbidity or death. This condition can be diagnosed through prenatal ultrasound but because diagnosis is done late when kidney injury has already happened it does not guarantee healthy survival after birth. There are various treatments in utero and after birth but they all have their complications. In developing countries diagnosis is possible but in most cases pregnant women with fetuses with PUVs present very late in pregnancy. In utero interventions are in most cases not possible and the only way out is expectant management with serial ultrasound assessment until the fetus has achieved level of maturity at which time it is delivered and further postnatal evaluations and treatment given. This series is aimed at highlighting the prenatal ultrasound features of PUVs and the management challenges faced by physicians in developing countries. Case presentation The three cases were managed in three different hospitals. All the cases presented at different gestational ages and different levels of fetal affectation. Because of these, outcomes of management and prognosis of each case differ. Conclusions Fetal PUVs pose specific challenges in management because of late presentation and lack of resource for intervention even where cases present early with minimal renal damage.","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":"78952155","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}
Abstract Objectives We present a case of immune-mediated diabetes mellitus, diagnosed in pregnancy upon presentation with diabetic ketoacidosis, found to have normal glucose control postpartum. Case presentation A 28-year-old medically uncomplicated G1P0 presented in diabetic ketoacidosis at 28.2 weeks gestation. Workup for pancreatic autoantibodies revealed indeterminate anti-islet cell antibodies and positive anti-glutamic acid antibodies. She was stabilized with intravenous fluids and insulin, and transitioned to long and short acting subcutaneous insulin. Her insulin requirements decreased over the course of her pregnancy. Spontaneous vaginal delivery occurred at 37 weeks. Her postpartum glucose control was normal without re-initiation of insulin. Conclusions The diagnosis of diabetic ketoacidosis during pregnancy should prompt further investigation into an underlying diagnosis of immune mediated diabetes. These patients should be followed closely in the postpartum period.
{"title":"A case of newly diagnosed autoimmune diabetes in pregnancy presenting after acute onset of diabetic ketoacidosis","authors":"C. DiNobile, A. Fuchs, K. Herrera","doi":"10.1515/crpm-2020-0042","DOIUrl":"https://doi.org/10.1515/crpm-2020-0042","url":null,"abstract":"Abstract Objectives We present a case of immune-mediated diabetes mellitus, diagnosed in pregnancy upon presentation with diabetic ketoacidosis, found to have normal glucose control postpartum. Case presentation A 28-year-old medically uncomplicated G1P0 presented in diabetic ketoacidosis at 28.2 weeks gestation. Workup for pancreatic autoantibodies revealed indeterminate anti-islet cell antibodies and positive anti-glutamic acid antibodies. She was stabilized with intravenous fluids and insulin, and transitioned to long and short acting subcutaneous insulin. Her insulin requirements decreased over the course of her pregnancy. Spontaneous vaginal delivery occurred at 37 weeks. Her postpartum glucose control was normal without re-initiation of insulin. Conclusions The diagnosis of diabetic ketoacidosis during pregnancy should prompt further investigation into an underlying diagnosis of immune mediated diabetes. These patients should be followed closely in the postpartum period.","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":"84141805","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}
Ana Carolina Lizarzaburu, M. Flores, Camila A. Jaramillo, Jose E. Leon-Rojas, D. Lizarzaburu
Abstract Objectives To report an unusual presentation of a Lobular Capillary Hemangioma in a 48 h old neonate to inform practitioners on the importance of proper identification of the lesion, differential diagnosis and management. Case presentation We report the case of a newborn female presenting with a pedunculated mass on the right hand, port-wine colored that quickly turned dark purple indicating thrombosis. The mass was surgically excised without complications and histopathology analysis reported a LCH. An abdominal and renal ultrasound was requested to rule out any underlying abnormalities. At follow-up, two months later, there is adequate healing and no related complications. Conclusions Lobular Capillary Hemangioma is a rare vascular malformation that occurs at an early age in the head and neck in most cases. We report an unusual case of a newborn female patient with a pedunculated lobular hemangioma on the right hand. Surgical treatment was performed with good cosmetic results. Our case is relevant as it raises awareness of the different diagnoses a congenital mass can be and that we, as physicians, should take into consideration when making a diagnosis and treatment.
{"title":"Congenital Lobular Capillary Hemangioma in a 48 hours old neonate: a case report and a literature review","authors":"Ana Carolina Lizarzaburu, M. Flores, Camila A. Jaramillo, Jose E. Leon-Rojas, D. Lizarzaburu","doi":"10.1515/crpm-2020-0077","DOIUrl":"https://doi.org/10.1515/crpm-2020-0077","url":null,"abstract":"Abstract Objectives To report an unusual presentation of a Lobular Capillary Hemangioma in a 48 h old neonate to inform practitioners on the importance of proper identification of the lesion, differential diagnosis and management. Case presentation We report the case of a newborn female presenting with a pedunculated mass on the right hand, port-wine colored that quickly turned dark purple indicating thrombosis. The mass was surgically excised without complications and histopathology analysis reported a LCH. An abdominal and renal ultrasound was requested to rule out any underlying abnormalities. At follow-up, two months later, there is adequate healing and no related complications. Conclusions Lobular Capillary Hemangioma is a rare vascular malformation that occurs at an early age in the head and neck in most cases. We report an unusual case of a newborn female patient with a pedunculated lobular hemangioma on the right hand. Surgical treatment was performed with good cosmetic results. Our case is relevant as it raises awareness of the different diagnoses a congenital mass can be and that we, as physicians, should take into consideration when making a diagnosis and treatment.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83922028","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}
B. Hüner, Annette Handke-Vesely, K. Lato, Andrea Korzoum, W. Janni, F. Reister
Abstract Objectives Thanks to the advances of modern medicine it has become possible to reach a fertile age even in the case of serious illnesses, enabling those patients to realize their desire to have children. This is also the case with the extremely heterogeneous, often autosomal dominantly inherited osteogenesis imperfecta. Due to a disruption in collagen synthesis those patients are faced with multiple fractures, spinal deformities and a decrease in pulmonary capacity throughout the course of their lives, depending on the subtype and severity of the disease. Obstetricians as well as anesthetists face major interdisciplinary challenges in the case of a pregnancy in those patients because of pregnancy-associated risks like uterine rupture, preterm birth and postpartum hemorrhage as well as risks associated with the nature of osteogenesis imperfecta itself, like bone fractures, spinal deformities and decreased mobility in the course of the progressing pregnancy. Mode of delivery should be planned individually in order to minimize maternal morbidity and mortality. In cases in which the fetus is as well affected by the disease, this aspect must be taken into consideration when it comes to supervision of pregnancy and planning of the birth mode. Case presentation We report the case of a woman with osteogenesis imperfecta type III who spontaneously conceived a pregnancy with a fetus who was also affected by the genetic disease. This constellation has up to now been reported by only few sources and requires supervision by an experienced perinatal center. Conclusions Osteogenesis imperfecta is not an exclusion diagnosis for family planning and a successful delivery. Nevertheless, depending on the form of the disease, mother and child can be severely affected by the disturbed collagen synthesis. Each patient has to be individually advised and cared for with the specific risks due to the type of Osteogenesis imperfecta. In the case of type III, due to extreme scoliosis, pelvic deformity and small growth, only a primary cesarean section can be performed.
{"title":"Mother and child with osteogenesis imperfecta type III. Pregnancy management, delivery, and outcome","authors":"B. Hüner, Annette Handke-Vesely, K. Lato, Andrea Korzoum, W. Janni, F. Reister","doi":"10.1515/crpm-2020-0045","DOIUrl":"https://doi.org/10.1515/crpm-2020-0045","url":null,"abstract":"Abstract Objectives Thanks to the advances of modern medicine it has become possible to reach a fertile age even in the case of serious illnesses, enabling those patients to realize their desire to have children. This is also the case with the extremely heterogeneous, often autosomal dominantly inherited osteogenesis imperfecta. Due to a disruption in collagen synthesis those patients are faced with multiple fractures, spinal deformities and a decrease in pulmonary capacity throughout the course of their lives, depending on the subtype and severity of the disease. Obstetricians as well as anesthetists face major interdisciplinary challenges in the case of a pregnancy in those patients because of pregnancy-associated risks like uterine rupture, preterm birth and postpartum hemorrhage as well as risks associated with the nature of osteogenesis imperfecta itself, like bone fractures, spinal deformities and decreased mobility in the course of the progressing pregnancy. Mode of delivery should be planned individually in order to minimize maternal morbidity and mortality. In cases in which the fetus is as well affected by the disease, this aspect must be taken into consideration when it comes to supervision of pregnancy and planning of the birth mode. Case presentation We report the case of a woman with osteogenesis imperfecta type III who spontaneously conceived a pregnancy with a fetus who was also affected by the genetic disease. This constellation has up to now been reported by only few sources and requires supervision by an experienced perinatal center. Conclusions Osteogenesis imperfecta is not an exclusion diagnosis for family planning and a successful delivery. Nevertheless, depending on the form of the disease, mother and child can be severely affected by the disturbed collagen synthesis. Each patient has to be individually advised and cared for with the specific risks due to the type of Osteogenesis imperfecta. In the case of type III, due to extreme scoliosis, pelvic deformity and small growth, only a primary cesarean section can be performed.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78108908","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}
Taddei Edoardo, Sartori Elena, Raio Luigi, Papadia Andrea
Abstract Objectives Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies. Case presentation Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination. Conclusions Every anatomical difference should always be further investigated in order to achieve the correct diagnosis.
{"title":"Early detection of Emanuel syndrome: a case report","authors":"Taddei Edoardo, Sartori Elena, Raio Luigi, Papadia Andrea","doi":"10.1515/crpm-2020-0049","DOIUrl":"https://doi.org/10.1515/crpm-2020-0049","url":null,"abstract":"Abstract Objectives Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies. Case presentation Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination. Conclusions Every anatomical difference should always be further investigated in order to achieve the correct diagnosis.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77687839","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. Perveen, K. Millington, S. Acharya, A. Garg, Vita Boyar
Abstract Objectives To describe challenges in diagnosis and treatment of congenital neonatal gangrene lesions associated with history of maternal coronavirus disease 2019 (COVID-19) infection. Case presentation A preterm neonate was born with upper extremity necrotic lesions and a history of active maternal COVID-19 infection. The etiology of his injury was challenging to deduce, despite extensive hypercoagulability work-up and biopsy of the lesion. Management, including partial forearm salvage and hand amputation is described. Conclusions Neonatal gangrene has various etiologies, including compartment syndrome and intrauterine thromboembolic phenomena. Maternal COVID-19 can cause intrauterine thrombotic events and need to be considered in a differential diagnosis.
{"title":"Neonate born with ischemic limb to a COVID-19 positive mother: management and review of literature","authors":"S. Perveen, K. Millington, S. Acharya, A. Garg, Vita Boyar","doi":"10.1515/crpm-2020-0086","DOIUrl":"https://doi.org/10.1515/crpm-2020-0086","url":null,"abstract":"Abstract Objectives To describe challenges in diagnosis and treatment of congenital neonatal gangrene lesions associated with history of maternal coronavirus disease 2019 (COVID-19) infection. Case presentation A preterm neonate was born with upper extremity necrotic lesions and a history of active maternal COVID-19 infection. The etiology of his injury was challenging to deduce, despite extensive hypercoagulability work-up and biopsy of the lesion. Management, including partial forearm salvage and hand amputation is described. Conclusions Neonatal gangrene has various etiologies, including compartment syndrome and intrauterine thromboembolic phenomena. Maternal COVID-19 can cause intrauterine thrombotic events and need to be considered in a differential diagnosis.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73543053","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}
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