Case Reports in Perinatal Medicine最新文献

Neurobehavioral assessment of a syndromic Dandy-Walker malformation using 4D ultrasound and KANET: a case report. 应用四维超声和KANET评价综合征型Dandy-Walker畸形的神经行为：1例报告。

IF 0.2

Case Reports in Perinatal Medicine Pub Date : 2025-09-23 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2025-0008

Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Milan Stanojević, Asim Kurjak

{"title":"Neurobehavioral assessment of a syndromic Dandy-Walker malformation using 4D ultrasound and KANET: a case report.","authors":"Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Milan Stanojević, Asim Kurjak","doi":"10.1515/crpm-2025-0008","DOIUrl":"10.1515/crpm-2025-0008","url":null,"abstract":"Objectives: To evaluate fetal neurobehavior using the Kurjak Antenatal Neurodevelopmental Test (KANET) via 4D ultrasound in a fetus diagnosed with syndromic Dandy-Walker Malformation (DWM), and to correlate these findings with postnatal outcomes.Case presentation: A 35-year-old woman was referred at 25 weeks' gestation for evaluation of multiple fetal anomalies. Ultrasound revealed hallmark DWM features - cerebellar vermis hypoplasia, enlarged posterior fossa, hydrocephalus - as well as extracranial anomalies including craniofacial dysmorphism, bilateral clubhands and clubfeet, and suspected hypoplastic left heart syndrome. A KANET assessment at 25+3 weeks yielded a severely abnormal score of 3. At 26 weeks, a male infant was delivered and survived 2 h postnatally. All anomalies were confirmed postnatally.Conclusions: KANET, even when performed slightly earlier than standard timing, provided critical insights into the fetus's neurobehavioral function and correlated strongly with the fatal outcome. This case supports the value of KANET as a non-invasive tool for assessing neurological integrity in complex fetal conditions where third-trimester evaluation may not be possible.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20250008"},"PeriodicalIF":0.2,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136732","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

Intravenous immunoglobulin (IVIG) therapy in pregnancies complicated by acute Parvovirus B19 infection in the second trimester: a case series. 静脉注射免疫球蛋白（IVIG）治疗妊娠中期合并急性细小病毒B19感染的病例系列

IF 0.2

Case Reports in Perinatal Medicine Pub Date : 2025-09-11 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2025-0010

Rachel Lee, David Garry, Kimberly Herrera, Jennifer Choi, Cassandra Heiselman, James Bernasko, Zenobia Gonsalves, Emily Stetler, Tiffany Yang, Elizabeth Garduno, Cecilia Avila

{"title":"Intravenous immunoglobulin (IVIG) therapy in pregnancies complicated by acute Parvovirus B19 infection in the second trimester: a case series.","authors":"Rachel Lee, David Garry, Kimberly Herrera, Jennifer Choi, Cassandra Heiselman, James Bernasko, Zenobia Gonsalves, Emily Stetler, Tiffany Yang, Elizabeth Garduno, Cecilia Avila","doi":"10.1515/crpm-2025-0010","DOIUrl":"10.1515/crpm-2025-0010","url":null,"abstract":"Objectives: Intravenous immunoglobulin (IVIG) in pregnancy has been used to treat hematologic conditions, but there is limited literature on its use in acute Parvovirus B19 infection. The purpose of this report is to highlight IVIG treatment recommendations based on low reticulocyte counts and high middle cerebral artery peak systolic velocity (MCA-PSV) values to prevent fetal hydrops, as well as identify which patients would benefit from high-dose IVIG administration in the setting of acute Parvovirus B19 infection in the second trimester.Case presentation: We present the treatment of acute Parvovirus B19 infection with IVIG in two affected pregnancies, as an alternative to percutaneous umbilical blood sampling (PUBS) and intrauterine transfusion (IUT).Conclusions: IVIG may be useful for Parvovirus B19 treatment in patients with erythropoietic suppression, in patients who decline PUBS/IUT with elevated MCA-PSV, and in patients who have difficult access to the placental cord insertion site, unsuccessful attempt at PUBS, or relative contraindications (i.e. significant abdominal surgery, high BMI).","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20250010"},"PeriodicalIF":0.2,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084975","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

Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report. 先天性血栓性血小板减少性紫癜：一个罕见的原因严重的新生儿黄疸和缺氧呼吸衰竭-一个病例报告。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-07-09 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0050

Hilal Al Mandhari, Fatma Albulushi, Nawal Al-Mashaikhi

{"title":"Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report.","authors":"Hilal Al Mandhari, Fatma Albulushi, Nawal Al-Mashaikhi","doi":"10.1515/crpm-2024-0050","DOIUrl":"10.1515/crpm-2024-0050","url":null,"abstract":"Objectives: This report describes the case of an infant with congenital thrombotic thrombocytopenic purpura.Case presentation: An infant who presented after birth with severe neonatal indirect hyperbilirubinemia, thrombocytopenia and hemolytic anemia. His initial neonatal course was complicated with hypoxemic respiratory failure due to persistent pulmonary hypertension of the newborn, acute kidney injury and disseminated intravascular coagulopathy. After surviving the acute neonatal presentation, he presented with stress-induced recurrent hemolytic anemia and thrombocytopenia. The diagnosis of congenital TTP was suspected and confirmed by low ADAMTS13 activity, the absence of ADAMTS13 inhibitors, and the identification of a homozygous variant in the ADAMTS13 gene.Conclusions: Although rare, congenital TTP needs to be considered by neonatologists when dealing with a neonate with hemolytic jaundice, anemia, and thrombocytopenia. PPHN can complicate the initial presentation of congenital TTP.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240050"},"PeriodicalIF":0.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12242915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607502","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

Gestational choriocarcinoma FIGO stage III, score 8 (high-risk) in 38-year-old woman four weeks postpartum. 妊娠期绒毛膜癌FIGO III期，评分8分（高危），38岁女性，产后4周。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-06-12 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0041

Clara Illi, Wolfgang Henrich, Larry Hinkson

{"title":"Gestational choriocarcinoma FIGO stage III, score 8 (high-risk) in 38-year-old woman four weeks postpartum.","authors":"Clara Illi, Wolfgang Henrich, Larry Hinkson","doi":"10.1515/crpm-2024-0041","DOIUrl":"10.1515/crpm-2024-0041","url":null,"abstract":"Objectives: Choriocarcinoma, an aggressive form of gestational trophoblastic neoplasia, can be divided into gestational and non-gestational types, each with distinct biological activity and prognosis. We report a case of gestational choriocarcinoma.Case presentation: A 38-year-old woman (2 Gravida, 2 Para) presented at our clinic four weeks after her second cesarean section with persistent vaginal bleeding and decreasing hemoglobin to 6.8 mg/L. In the ultrasound examination, retained placental tissue was suspected. Since conservative management with misoprostol was not effective, a curettage was performed. The histopathological result revealed a gestational choriocarcinoma invading the myometrium (CK18 positive, HPL positive, beta-hCG positive, p63 negative, PLAP positive, Ki67 (MIB-1)>80 %). Beta-hCG was 50,607 IU/L at the time of diagnosis. The computed tomography (CT) scan revealed bilateral pulmonary metastases. There were no metastases to the liver, lymph nodes, skeleton or brain. In accordance with FIGO recommendations [stage III, Score 8 (high risk) choriocarcinoma] a multi-drug chemotherapy after EMACO-regimen was started 9.5 weeks postpartum during 14 days for seven cycles. The patient has been in tumor remission since then.Conclusions: Choriocarcinoma is a differential diagnosis of vaginal peripartum bleeding and might likely be underdiagnosed. Risk factors like a prior hydatidiform mole or abortion, Asian, Indian American, African American or Hispanic ethnicity, advanced maternal age (>40 years), blood group A, or high/increasing beta-hCG postpartum should be taken into consideration.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240041"},"PeriodicalIF":0.1,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12165762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301180","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

Conservative approach for intra-amniotic Candida albicans colonisation. Case report and review of current evidence. 羊膜内白色念珠菌定植的保守方法。案件报告和现有证据的审查。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-06-11 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0047

Beatriz Bové, Irene Barragán, Laia Pratcorona, Roser Porta, Raül de Diego, Ma Carmen Comas, María Méndez, Carlos Rodrigo Gonzalo de Liria

{"title":"Conservative approach for intra-amniotic Candida albicans colonisation. Case report and review of current evidence.","authors":"Beatriz Bové, Irene Barragán, Laia Pratcorona, Roser Porta, Raül de Diego, Ma Carmen Comas, María Méndez, Carlos Rodrigo Gonzalo de Liria","doi":"10.1515/crpm-2024-0047","DOIUrl":"10.1515/crpm-2024-0047","url":null,"abstract":"Objectives: Intra-amniotic colonisation or infection caused by Candida albicans is rare. Given the shortage of reported cases, evidence on antifungal strategies and the choice of type and timing of delivery is limited.Case presentation: We report a case of intra-amniotic colonisation by C. albicans in a pregnant woman with a previous history of cervical cerclage and candidal vaginosis at 25 weeks of gestational age (GA). The diagnosis was made following preterm premature rupture of membranes at GA 28 weeks and 6 days. Treatment was started with amphotericin B and was replaced by fluconazole due to an anaphylactic reaction. The persistence of C. albicans in the amniotic fluid after 24 days of treatment prompted the decision to plan an elective caesarean delivery at 32 weeks' GA. The infant showed no signs of fungaemia and had an uneventful clinical course after 14 days of treatment with fluconazole.Conclusions: Conservative management with intravenous fluconazole in pregnant women with intra-amniotic colonisation by C. albicans at early GA, can contribute to the prolongation of pregnancy while protecting the foetus from fungal disease.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240047"},"PeriodicalIF":0.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274263","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

Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis. 研究了CMA和WES对常规核型分析结果为正常核型的孕妇的有效性。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-06-09 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0049

Masum Kayapınar, Zafer Bütün, Ece Akça Salık, Sinem Kocagil, Ezgi Susam

{"title":"Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.","authors":"Masum Kayapınar, Zafer Bütün, Ece Akça Salık, Sinem Kocagil, Ezgi Susam","doi":"10.1515/crpm-2024-0049","DOIUrl":"10.1515/crpm-2024-0049","url":null,"abstract":"Objectives: With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. In this study, we examined the correlation between the results of chromosomal microarray analysis (CMA) and WES in pregnant women, as compared to conventional karyotype analysis and ultrasound (US) findings.Methods: Fetal US were performed on pregnant females referred to our clinic with suspected fetal anomalies, as well as those who had anomalies detected by targeted US. Comprehensive counseling was provided to all parents. Karyotyping, CMA, and WES were offered for all fetuses through amniocentesis, CVS, and cordocentesis. We compared the demographic data and ultrasound findings of pregnant females with normal and abnormal WES results.Results: WES results indicated a normal karyotype in 14 pregnant females and an abnormal karyotype in 12 pregnant females. CMA showed an abnormal karyotype in three of the pregnant females, whose WES results were normal. US findings were more frequently observed in pregnant females with abnormal WES results.Conclusions: Among the organ systems, the cardiac system is at the highest risk for anomalies. The risk further increases when multiple system anomalies are present. Incorporating WES alongside CMA may enhance diagnostic accuracy and be beneficial for subsequent pregnancies. Our US results do not align with the existing literature, and further evaluations with larger patient populations are needed to reconcile these findings with current research.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240049"},"PeriodicalIF":0.1,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257428","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

Fetal treatment and long-term neonatal outcomes in severe maternal red cell alloimmunization - a single-centre experience. 严重母体红细胞同种免疫的胎儿治疗和长期新生儿结局——单中心经验。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-06-09 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0040

Vita Andreja Mesarič, Irena Bricl, Erika Hrastar, Lilijana Kornhauser Cerar, Jana Lozar Krivec, Miha Rus, Derek P de Winter, Tanja Premru Sršen

{"title":"Fetal treatment and long-term neonatal outcomes in severe maternal red cell alloimmunization - a single-centre experience.","authors":"Vita Andreja Mesarič, Irena Bricl, Erika Hrastar, Lilijana Kornhauser Cerar, Jana Lozar Krivec, Miha Rus, Derek P de Winter, Tanja Premru Sršen","doi":"10.1515/crpm-2024-0040","DOIUrl":"10.1515/crpm-2024-0040","url":null,"abstract":"Objectives: Haemolytic disease of the fetus and newborn (HDFN) occurs due to maternal IgG alloantibodies that actively cross the placenta and bind to paternally derived fetal antigens on the erythrocytes. The aims of this study were to describe the Slovenian cohort of patients with severe HDFN, who required fetal treatment, to review the fetal treatment strategies, and to describe pregnancy and neurodevelopmental outcomes.Case series presentation: Data on patients who developed severe HDFN between 2006 and 2021 and were treated at our institution were collected retrospectively. Primary care pediatricians were contacted regarding neurodevelopmental outcomes of surviving infants. There were 19 pregnancies affected with severe HDFN. The most commonly implicated antigen was RhD. Seventeen children were liveborn. Sixteen fetuses were treated with intrauterine transfusion (IUT). Two children had developmental delay at the corrected age of 2 years.Conclusions: In this study, the Slovenian national cohort of severe cases of HDFN is described for the first time. Prevalence of RhD alloimmunization was higher in comparison to the literature. A combined treatment with therapeutic plasmapheresis, immunoglobulins and IUT was successful. Three quarters of newborns were born in the late preterm period. Overall survival rate and long-term neonatal adverse outcomes in our cohort were in line with the literature.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240040"},"PeriodicalIF":0.1,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257427","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

Duplication of chromosome 1q32.1q44: presented with ventriculomegaly and transient myeloproliferative disorder of the newborn. 染色体1q32.1q44的重复：新生儿心室肿大和短暂性骨髓增生性疾病。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-05-28 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0031

Medha Goyal, Malgorzata Joanna Nowaczyk, Vicky Breakey, Elizabeth McCready, Ipsita Goswami

{"title":"Duplication of chromosome 1q32.1q44: presented with ventriculomegaly and transient myeloproliferative disorder of the newborn.","authors":"Medha Goyal, Malgorzata Joanna Nowaczyk, Vicky Breakey, Elizabeth McCready, Ipsita Goswami","doi":"10.1515/crpm-2024-0031","DOIUrl":"10.1515/crpm-2024-0031","url":null,"abstract":"Objectives: Partial trisomy of chromosome 1 has been reported following unbalanced translocations with partial monosomies of other chromosomes and rarely as a pure partial duplication. We aim to discuss partial trisomy 1q with cytogenetics and describe our findings of this uncommon chromosomal aneuploidy.Case presentation: A male term neonate presented with antenatal ventriculomegaly and early fetal growth restriction. He was dysmorphic at birth and his postnatal course was complicated by transient myeloproliferative disorder, neonatal seizures, skin rash, conjugated hyperbilirubinemia, and milk protein allergy. Etiological work-ups including congenital infections, immunological disorders, and inborn error of metabolisms were negative. The findings of transient myeloproliferative disorder in association with partial 1q trisomy which have not been previously described in the literature, raise the possibility of abnormal vasculature of generalized nature, resulting in cutis marmorata, signs of intestinal inflammation, and abnormal cerebral vascular supply.Conclusions: This case study highlights the importance of pooling cases with similar locations of duplication, segment size, and related chromosomal deficiency together to understand distinct clinical phenotypes.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240031"},"PeriodicalIF":0.1,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12124722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198315","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

KCNQ2 variants in neonatal onset of self-limiting epilepsy. KCNQ2变异与新生儿自限性癫痫发病的关系

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-05-28 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0039

Shruthi Mundasad, Anthony R Hart, Hannah K Robinson, Anne Greenough

{"title":"KCNQ2 variants in neonatal onset of self-limiting epilepsy.","authors":"Shruthi Mundasad, Anthony R Hart, Hannah K Robinson, Anne Greenough","doi":"10.1515/crpm-2024-0039","DOIUrl":"10.1515/crpm-2024-0039","url":null,"abstract":"Objectives: To describe the clinical presentation and response to medication in two cases of self-limiting KCNQ2-related epilepsy.Case presentation: Both infants were born at term and had tonic seizures during the first two weeks after birth. The first infant had frequent seizures at presentation requiring two weeks of hospital stay. The second infant was born three months later and was only briefly admitted to hospital. The first infant was conceived by sperm for in vitro fertilization donated by the second case's father. Trio genome sequencing in case one successfully identified a pathogenic KCNQ2 variant in the proband, which was also confirmed in the proband for case 2 by targeted Sanger sequencing. The second case's father was an asymptomatic carrier of the pathogenic variant. Both infants responded to Carbamazepine. At more than six months of age, they are currently seizure free and developmentally normal.Conclusions: Self-limited epilepsies with onset in neonates (SeLNE) are usually autosomal dominant disorders characterized by the neonatal onset of focal motor seizures and the absence of neurodevelopmental complications. KCNQ2, encoding a voltage-gated potassium channel subunit, KV7.2, is the most common gene associated with SeLNE. Careful history taking and a genetic diagnosis can help to make the correct therapeutic choices.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240039"},"PeriodicalIF":0.1,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12124906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198314","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

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate. 中线缺损伴胼胝体发育不全、蚓体发育不全、中唇颚裂。

IF 0.1

Case Reports in Perinatal Medicine Pub Date : 2025-05-05 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0048

Clara Illi, Josefine Theresia Koenigbauer, Alexander Weichert

{"title":"Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.","authors":"Clara Illi, Josefine Theresia Koenigbauer, Alexander Weichert","doi":"10.1515/crpm-2024-0048","DOIUrl":"https://doi.org/10.1515/crpm-2024-0048","url":null,"abstract":"Objectives: Midline defects in the brain may be related to genetic syndromes. Association with facial anomalies and skeletal deformities has been described.Case presentation: In the present case, a routine second trimester scan revealed cerebral abnormalities (corpus callosum agenesis, cerebellar cleft due to vermian hypoplasia, ventriculomegaly), suspected cortical developmental disorder, hypertelorism, a hypoplastic nasal bone, a small median cleft lip and palate, abnormal facial profile, as well as syndactyly of the left hand involving the fourth and fifth finger. Genetic testing revealed a normal karyotype. Subsequent trio exome sequencing did not identify any pathogenic variants or variants of unknown significance. The vaginal delivery at term and postnatal adaptation were uneventful. Postnatal neurosonographic imaging and clinical evaluation confirmed the prenatal findings. Both mother and child were discharged in healthy condition with scheduled follow-ups. Differential diagnoses of the present anomalies include Hartsfield-Bixler-Demyer Syndrome, Oro-Facial-Digital-Syndromes, Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Syndrome and Acrocallosal Syndrome.Conclusions: Invasive diagnostic and genetic testing are recommended when multiple fetal anomalies suggest a potential genetic syndrome. While not all cases reveal an underlying genetic cause, prenatal findings can provide valuable information to help parents and healthcare providers make informed decisions about the continuation of the pregnancy.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240048"},"PeriodicalIF":0.1,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076236","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