Case Reports in Perinatal Medicine最新文献_第5页

An unusual case of the congenital mesenchymal hamartoma of the neck associated with the midline cervical cleft in neonate. 新生儿颈中线裂合并颈部先天性间质错构瘤的罕见病例

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Case Reports in Perinatal Medicine Pub Date : 2022-06-02 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0094

Ida Nađ, Dorotea Šijak, Sonja Anić Jurica, Antonia Jakovčević

{"title":"An unusual case of the congenital mesenchymal hamartoma of the neck associated with the midline cervical cleft in neonate.","authors":"Ida Nađ, Dorotea Šijak, Sonja Anić Jurica, Antonia Jakovčević","doi":"10.1515/crpm-2021-0094","DOIUrl":"10.1515/crpm-2021-0094","url":null,"abstract":"Objectives: Hamartomas are non-neoplastic developmental anomalies, mostly congenital, characterized by uncontrolled, disorganized proliferation of local endogenous tissue, which can normally be found at the site of origin and are very often mesodermally derived. It is well known that hamartoma can be associated with congenital midline cervical cleft and therefore cause a variety of symptoms. In general, they are benign and indolent, but they can be the cause of complex morbidity if they are localized within specific regions, such as the head and neck, which represent highly sensitive and vulnerable areas.Case presentation: The reported case is unusual because of the presence of a congenital mesenchymal hamartoma along with the median cervical cleft, in a 1-day-old neonate, without the presence of any respiratory symptoms or associated congenital features. Although extremely rare, hamartomas should be included in the differential diagnosis of congenital neck masses, with emphasis on diagnostic approach, to avoid overly aggressive treatment and possible complications, such as infection, further mass growth, malignant transformation and compression of the adjacent neck structures.Conclusions: Appropriate and timely treatment of the hamartoma of the neck in neonates, with further follow-up is necessary to avoid an overly aggressive treatment and to distinguish benign from malignant lesions, which is necessary for successful curative outcome.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"113 1","pages":"20210094"},"PeriodicalIF":0.1,"publicationDate":"2022-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76807650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Umbilical artery aneurysm without aneuploidy and delivery of a live neonate. 无非整倍体的脐动脉瘤和新生儿的活产

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Case Reports in Perinatal Medicine Pub Date : 2022-05-27 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0091

Gregory K Lewis, Josette C Dawkins, Xiangna Tang

{"title":"Umbilical artery aneurysm without aneuploidy and delivery of a live neonate.","authors":"Gregory K Lewis, Josette C Dawkins, Xiangna Tang","doi":"10.1515/crpm-2021-0091","DOIUrl":"10.1515/crpm-2021-0091","url":null,"abstract":"Objectives: Umbilical artery aneurysm, a rare structural anomaly of the umbilical cord, is frequently associated with fetal aneuploidy, fetal growth restriction and fetal demise. At present there are no definitive protocols or guidelines for the surveillance and management of this condition.Case presentation: The index case is an 18-year-old primigravida who had an ultrasound at 35 weeks and 5 days gestation due to lagging symphysio-fundal height measurement. The ultrasound scan revealed a normal fetus with estimated fetal weight that was appropriate for gestational age. There was a cystic structure with internal echoes originating from the placenta at the point of the umbilical cord insertion, which was determined to be a 1.9 × 1.8 cm umbilical artery aneurysm on 3D and Doppler imaging. On follow up imaging the aneurysm had increased in size and measured 3.06 × 1.79 cm. The patient subsequently had a cesarean section delivery of a live female. Karyotyping subsequently revealed 46 XX.Conclusions: A total of 15 cases of umbilical artery aneurysm have been reported in the literature to date, of which there were 5 live born infants with normal karyotype. The remaining 10 cases were intra-uterine fetal demise or trisomy 18 with subsequent neonatal deaths. When monitoring the aneurysms with ultrasound, change in size and Doppler indices play a pivotal role in helping to determine time and mode of delivery and thus allow for a favorable perinatal outcome.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"44 1","pages":"20210091"},"PeriodicalIF":0.1,"publicationDate":"2022-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75284510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe hematoma following the use of low molecular weight heparin in preterm neonate. 早产新生儿使用低分子肝素后的严重血肿

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Case Reports in Perinatal Medicine Pub Date : 2022-05-26 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0086

Naveed Ur Rehman Durrani, Elhindi Elfaki, Nqobile Tessa Sigola, Charlotte Tscherning, Samir Gupta, Graeme E Glass, Phani Kiran Yajamanyum

引用次数: 0

Massive fetomaternal hemorrhage: a case series and review of literature. 大量胎儿出血:一个病例系列和文献回顾

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Case Reports in Perinatal Medicine Pub Date : 2022-05-26 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0079

Carolina Smet, Luísa Queiró, Edmundo Santos, Ana Reis, Cristina Costa

引用次数: 0

Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum. 遗传咨询在肾脏和泌尿系统先天性异常(CAKUT)频谱的挑战

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Case Reports in Perinatal Medicine Pub Date : 2022-04-20 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0063

Ping Gong, Myriam Pelletier, Neil Silverman, Kathleen Kuhlman, Robert Wallerstein

{"title":"Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum.","authors":"Ping Gong, Myriam Pelletier, Neil Silverman, Kathleen Kuhlman, Robert Wallerstein","doi":"10.1515/crpm-2021-0063","DOIUrl":"10.1515/crpm-2021-0063","url":null,"abstract":"Objectives: Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum.Case presentation: We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the GREB1L gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers. The first familial variant was identified by a multi-gene CAKUT panel and the second by whole exome sequencing. Renal ultrasound showed the father in family 1 had asymptomatic unilateral pelvic kidney and the father in family 2 had no apparent renal anomalies.Conclusions: Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"48 1","pages":"20210063"},"PeriodicalIF":0.1,"publicationDate":"2022-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85191603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anaplastic ganglioglioma in pregnancy a cause of cerebral edema and maternal death. 妊娠期间变性神经节胶质瘤是脑水肿和产妇死亡的原因之一

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Case Reports in Perinatal Medicine Pub Date : 2022-04-07 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2022-0002

Luisa F Capera, Rafael L Aragón Mendoza, Roberto Gallo Roa, Viviana Dávila Romero

引用次数: 0

Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review. 外指-外胚层发育不良劈裂综合征的产前诊断1例并文献复习

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Case Reports in Perinatal Medicine Pub Date : 2022-04-07 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0076

Egle Savukyne, Egle Machtejeviene, Kotryna Bajeruniene, Virginija Asmoniene

{"title":"Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review.","authors":"Egle Savukyne, Egle Machtejeviene, Kotryna Bajeruniene, Virginija Asmoniene","doi":"10.1515/crpm-2021-0076","DOIUrl":"10.1515/crpm-2021-0076","url":null,"abstract":"Objectives: The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene's mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss.Case presentation: This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide.Conclusions: The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"2 1","pages":"20210076"},"PeriodicalIF":0.1,"publicationDate":"2022-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81708179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pelvic abscess associated with Actinomyces species ‒ a rare post-cesarean complication. 盆腔脓肿与放线菌有关-一种罕见的剖宫产后并发症

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Case Reports in Perinatal Medicine Pub Date : 2022-03-14 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0048

Yuping Wang, Simone Ferrero, Shasha Li, Shisan Liu, Wah Yang

{"title":"Pelvic abscess associated with Actinomyces species ‒ a rare post-cesarean complication.","authors":"Yuping Wang, Simone Ferrero, Shasha Li, Shisan Liu, Wah Yang","doi":"10.1515/crpm-2021-0048","DOIUrl":"10.1515/crpm-2021-0048","url":null,"abstract":"Objectives: Pelvic actinomycotic abscess is uncommon and its presentation as a post-cesarean complication may be confused with hemorrhagic mass. It is still a disease that poses a significant diagnostic challenge. Management and prognosis are not well known for this type of infection.Case presentation: A 36-year-old woman was admitted to the hospital six days after the cesarean section with abdominal pain and dysuria. The second operation was diagnosed as pelvic abscess, debridement and drainage about 250 mL abscess. Bacterial culture of abscess confirmed as Actinomyces odontolyticus infection. Intravenous penicillin was given immediately, amoxicillin was taken orally for three months after discharge, and no recurrence was found after follow-up for ten months.Conclusions: Pelvic A. odontolyticus abscess may be confirmed through correct bacterial culture and cured by a short-term course of Amoxicillin. With prompt recognition and treatment, favorable outcomes of pelvic Actinomycotic abscess in the perinatal period could be achieved.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"24 1","pages":"20210048"},"PeriodicalIF":0.1,"publicationDate":"2022-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78883723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Haemophagocytic lymphohistiocytosis during pregnancy: a case presentation and literature review. 妊娠期嗜血球性淋巴组织细胞增多症一例报告及文献复习

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Case Reports in Perinatal Medicine Pub Date : 2022-03-04 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0004

Larissa Fávero Vanraes, Veerle Beckers, Kim Van Berkel, Leonardo Gucciardo, Gilles Faron

引用次数: 0

Neonatal sepsis due to Coxsackievirus B3 complicated by liver failure and pulmonary hemorrhage. 柯萨奇B3病毒致新生儿败血症并发肝功能衰竭和肺出血

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Case Reports in Perinatal Medicine Pub Date : 2022-03-04 eCollection Date: 2022-01-01 DOI: 10.1515/crpm-2021-0085

Rasmey Thach, Lorenzo Gitto

{"title":"Neonatal sepsis due to Coxsackievirus B3 complicated by liver failure and pulmonary hemorrhage.","authors":"Rasmey Thach, Lorenzo Gitto","doi":"10.1515/crpm-2021-0085","DOIUrl":"10.1515/crpm-2021-0085","url":null,"abstract":"Objectives: Coxsackievirus B3 (CVB3) is a single-stranded RNA included in the \"Human Enterovirus B\" category associated with multiple, even severe, health issues in humans. Newborns are at risk of life-threatening conditions due to enteroviral infections. In newborns, the infection can be transmitted vertically, intrapartum or postpartum, and potentially through breast milk. Neonatal sepsis may result in severe complications, such as liver failure and pulmonary hemorrhage, with subsequent death.Case presentation: A male newborn was admitted to the emergency department with fever, generalized hypotonia, hypo-reactivity to external stimuli, multiple episodes of apnea and desaturation, and metabolic acidosis. Laboratory studies revealed disseminated intravascular coagulation, and evidence of progressive multiorgan failure. Polymerase chain reaction performed on specimens collected at the time of admission returned positive for Enterovirus, specifically Coxsackievirus B3 VP1 gene. The patient eventually succumbed after several days due to severe sepsis, despite aggressive treatment with immunoglobulins and Pleconaril. An autopsy revealed hemorrhage in the lung, liver, heart, and gastric mucosa.Conclusions: Enteroviral neonatal infections should be included in the differential diagnosis of a newborn presenting with fever, failure to thrive, and hyporeactivity, especially if symptoms arise during the classic CVB3 season. Maternal medical history should be reviewed for any possible febrile symptoms associated with a recent enterovirus infection. Aggressive treatment with immunoglobulins and, if available, Pleconaril could effectively treat the infection.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"97 1","pages":"20210085"},"PeriodicalIF":0.1,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90988593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0