Case Reports in Perinatal Medicine最新文献

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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":"<p><strong>Objectives: </strong>Midline defects in the brain may be related to genetic syndromes. Association with facial anomalies and skeletal deformities has been described.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","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
Appendicitis in pregnancy, higher rate of perforation compared to nonpregnant patients. 妊娠阑尾炎患者穿孔率高于非妊娠患者。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2025-05-05 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0042
Mary Beth Janicki, Reinaldo Figueroa, Dorothy Wakefield, Jennifer Hill, David Shapiro
{"title":"Appendicitis in pregnancy, higher rate of perforation compared to nonpregnant patients.","authors":"Mary Beth Janicki, Reinaldo Figueroa, Dorothy Wakefield, Jennifer Hill, David Shapiro","doi":"10.1515/crpm-2024-0042","DOIUrl":"https://doi.org/10.1515/crpm-2024-0042","url":null,"abstract":"<p><strong>Objectives: </strong>To compare clinical presentation and diagnostic evaluation to identify differences in treatment between pregnant and nonpregnant patients with appendicitis.</p><p><strong>Methods: </strong>Retrospective case-control study comparing 12 pregnant and 60 nonpregnant, age-matched patients who had an appendectomy for acute appendicitis (pathology confirmed) between January 1, 2011 and June 30, 2019. We compared maternal characteristics, laboratory test results, physical examination findings, diagnostic work-up, surgical modality, and surgical outcomes.</p><p><strong>Results: </strong>There was no difference in symptom profile and pain intensity at presentation between groups. More pregnant patients had right upper quadrant tenderness (83.3% vs. 31 %, p=0.03) and were more likely to have more than one imaging diagnostic modality (75% vs. 15 %, p<0.01). In nonpregnant patients, computed tomography was the main diagnostic modality (90 %) whereas there was more variation in imaging for pregnant patients. For pregnant patients, time from presentation to surgery (20.0 ± 11.8 h vs. 9.9 ± 4.9 h; p=0.01) and time from presentation to receipt of antibiotics (14.5 ± 12.0 h vs. 5.9 ± 3.2 h, p<0.01) were twice that of nonpregnant patients. Surgery duration was similar between groups (pregnant: 54.8 ± 31.3 min vs. nonpregnant: 45.6 ± 19.5 min, p=0.34). All nonpregnant patients underwent laparoscopic appendectomy. Seven pregnant patients underwent laparoscopy, three had laparotomy, and two began with laparoscopy that was converted to laparotomy. More pregnant patients perforated (25 % vs. 3.3 %, p=0.03).</p><p><strong>Conclusions: </strong>Despite having similar presentations, it took twice as long to treat pregnant patients with antibiotics and perform an appendectomy. More perforations occurred in pregnant patients compared to nonpregnant patients.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240042"},"PeriodicalIF":0.1,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076235","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
Serial echocardiography in preterm infants with bronchopulmonary dysplasia: diagnosing and managing recurrent pulmonary vein stenosis. 连续超声心动图在早产儿支气管肺发育不良:诊断和处理复发性肺静脉狭窄。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2025-03-24 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0038
Oishi Sikdar, Mahesh Nanjundappa, Aaron Bell, Matthew Jones, Anne Greenough
{"title":"Serial echocardiography in preterm infants with bronchopulmonary dysplasia: diagnosing and managing recurrent pulmonary vein stenosis.","authors":"Oishi Sikdar, Mahesh Nanjundappa, Aaron Bell, Matthew Jones, Anne Greenough","doi":"10.1515/crpm-2024-0038","DOIUrl":"10.1515/crpm-2024-0038","url":null,"abstract":"<p><strong>Objectives: </strong>To highlight the importance of serial echocardiography in preterm infants with bronchopulmonary dysplasia (BPD) to diagnose recurrent pulmonary vein stenosis (PVS) and understand its contribution to respiratory deteriorations.</p><p><strong>Case presentation: </strong>A preterm female infant born at 23+5 weeks gestation had numerous complications related to extreme prematurity, including BPD. She was diagnosed with PVS on echocardiogram after experiencing recurrent respiratory deteriorations and pulmonary hypertensive crises. Initial management involved transcutaneous balloon dilatation. A serial echocardiographic programme was implemented, with weekly monitoring of PVS. She suffered multiple respiratory deteriorations secondary to recurrence of PVS, necessitating repeat cardiac catheterisations and transcatheter stenting. Systemic macrolide therapy with sirolimus was used as adjunctive therapy.</p><p><strong>Conclusions: </strong>Extremely prematurely born infants who develop BPD are at higher risk of recurrent PVS. We demonstrate that serial echocardiographic monitoring facilitates early diagnosis and prompt intervention of PVS. Any respiratory deterioration in such infants should be assessed by an echocardiogram.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240038"},"PeriodicalIF":0.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708672","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
Peripartum COVID-19 & hemophagocytic lymphohistiocytosis: a case report. 围产期新冠肺炎合并噬血细胞淋巴组织细胞增多症1例。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-12-17 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0033
Kathy Mostajeran, Daniel Rabulinksi, Abdul Khan, Nehan Sher, Christopher K Huls, Chien C Oh
{"title":"Peripartum COVID-19 & hemophagocytic lymphohistiocytosis: a case report.","authors":"Kathy Mostajeran, Daniel Rabulinksi, Abdul Khan, Nehan Sher, Christopher K Huls, Chien C Oh","doi":"10.1515/crpm-2024-0033","DOIUrl":"10.1515/crpm-2024-0033","url":null,"abstract":"<p><strong>Objectives: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of hypercytokinemia and immune dysregulation. Most commonly diagnosed in the pediatric population due to genetic predisposition, the condition can manifest in the adult population secondary to an immune dysregulating event, such as infection, malignancy, rheumatologic disorders, immunodeficiency, and checkpoint inhibitors. The presentation and diagnosis during pregnancy are extremely rare and elusive. We present a case of secondary HLH during the peripartum period, urging obstetrical providers to keep the condition as part of their differential diagnosis.</p><p><strong>Case presentation: </strong>A 20-year-old Gravida 1, with a past medical history significant for non-alcoholic hepatosteatosis and morbid obesity, presented multiple times to the emergency department in the third trimester with liver function test derangements and vague complaints of subjective fevers and fatigue. She eventually tested positive for COVID-19. Two weeks after the initial presentation, she went into spontaneous preterm labor and delivered. Postpartum, her liver dysfunction worsened in association with high fevers and persistent tachycardia. After an extensive workup failed to reveal an etiology, HLH was suspected. Labs were sent for confirmation, and she was initiated on pulse-dose steroids. However, the patient acutely decompensated and succumbed to the disease. Several days later, labs resulted, confirming the diagnosis of HLH.</p><p><strong>Conclusions: </strong>In peripartum patients presenting with severe derangements in liver function tests and vague symptoms with undulating episodes of pyrexia, HLH should be considered early as part of the differential diagnosis. This is particularly true when antibiotics or postpartum status fail to alleviate the symptomatology or improve the clinical course.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240033"},"PeriodicalIF":0.1,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555980","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
An unusual case of twin anemia polycythemia sequence complicated by premature ductus arteriosus constriction of the recipient twin. 一例罕见的双胞胎贫血,红细胞增多症序列合并过早动脉导管收缩的受体双胞胎。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-10-21 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0027
Ravi Chokshi, Kathryn McMullen, Shelly Soni, Robert Tunks, James O'Brien
{"title":"An unusual case of twin anemia polycythemia sequence complicated by premature ductus arteriosus constriction of the recipient twin.","authors":"Ravi Chokshi, Kathryn McMullen, Shelly Soni, Robert Tunks, James O'Brien","doi":"10.1515/crpm-2024-0027","DOIUrl":"https://doi.org/10.1515/crpm-2024-0027","url":null,"abstract":"<p><strong>Objectives: </strong>To add to the nascent literature on twin anemia polycythemia sequence by presenting a unique cardiac complication in the recipient twin.</p><p><strong>Case presentation: </strong>We describe a monochorionic diamniotic pregnancy complicated by twin anemia polycythemia sequence wherein the recipient twin developed signs of right heart failure secondary to premature ductus arteriosus constriction, requiring iatrogenic preterm delivery to avoid intrauterine demise.</p><p><strong>Conclusions: </strong>This case report introduces a previously undescribed complication of twin anemia polycythemia sequence and adds to the growing literature on this clinical entity.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240027"},"PeriodicalIF":0.1,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960196","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
Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2. 致死性先天性收缩综合征胎儿神经源性巨囊炎的产前诊断。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-10-09 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0024
Christos G Hatjis, Wendy J Sturtz, Jillian Taylor, Elizabeth Melchionna, Kerry K Brown
{"title":"Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2.","authors":"Christos G Hatjis, Wendy J Sturtz, Jillian Taylor, Elizabeth Melchionna, Kerry K Brown","doi":"10.1515/crpm-2024-0024","DOIUrl":"https://doi.org/10.1515/crpm-2024-0024","url":null,"abstract":"<p><strong>Objectives: </strong>To describe the prenatal diagnosis, unique clinical features, clinical and genetic evaluation, and the pregnancy and neonatal course of two siblings affected by Lethal Congenital Contractural Syndrome 2 (LCCS2).</p><p><strong>Case presentation: </strong>We present two cases of LCCS2, a rare autosomal recessive disorder in the arthrogryposis multiplex spectrum of syndromes whose <i>sine qua non</i> feature is the presence of nonobstructive, neurogenic megacystis. The prenatal diagnosis of this syndrome has not been previously reported. This syndrome has been previously studied in detail in an Israeli-Bedouin kindred but it has not been reported in the Americas.</p><p><strong>Conclusions: </strong>These two cases illustrate the diagnostic and therapeutic dilemmas associated with this rare genetic abnormality. LCCS2 can be seen in other patient populations besides Israeli-Bedouin. They also suggest the presence of phenotypic variability in the clinical outcomes. Finally, they underscore the need for specialized diagnostic capabilities, the involvement of multidisciplinary teams to support challenging family situations, and the need for shared decision-making.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240024"},"PeriodicalIF":0.1,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964206","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 hyaloid artery in first trimester of pregnancy: slowflowHD study. 妊娠早期胎儿玻璃体动脉:慢流whd研究。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-10-09 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0025
Toshiyuki Hata, Aya Koyanagi, Riko Takayoshi, Yasunari Miyagi, Takahito Miyake
{"title":"Fetal hyaloid artery in first trimester of pregnancy: slow<i>flow</i>HD study.","authors":"Toshiyuki Hata, Aya Koyanagi, Riko Takayoshi, Yasunari Miyagi, Takahito Miyake","doi":"10.1515/crpm-2024-0025","DOIUrl":"https://doi.org/10.1515/crpm-2024-0025","url":null,"abstract":"<p><strong>Objectives: </strong>To detect fetal hyaloid artery (FHA) blood flow using Slow<i>flow</i>HD in the first trimester.</p><p><strong>Methods: </strong>During the 8-month period from February to September 2023, one-hundred and eighty-three trans-abdominal scans were performed for first-trimester screening in singleton pregnancies at 11-13 + 6 weeks of gestation. One-hundred and fifty-two cases were excluded from the study due to inappropriate fetal positions, excessive fetal movements, and excessive distances between the fetus and probe; thus, thirty-one fetuses (20.4 %) were examined, comprising 19 uni- and 12 bilateral orbits. One fetus with trisomy 21 was also evaluated at 12 weeks and 1 day. FHA was classified into two types based on the starting point angle (Straight, straightly diverged from ophthalmic artery; and Curved, crookedly diverged from ophthalmic artery) using Slow<i>flow</i>HD.</p><p><strong>Results: </strong>In 19 uni- and 12 bilateral orbits in 31 fetuses, FHA could be identified in all orbits. In one orbit at 13 weeks and 5 days, blood flow on the string FHA could be detected. The vasa hyaloidea propria was noted in 3 orbits, and the posterior vascular capsule was depicted in 7 orbits. The incidence of Straight-type FHA increased with advancing gestation (p<0.0001). In a fetus with Trisomy 21, Straight-type FHA was noted in the left orbit, whereas FHA could not be identified in the right orbit.</p><p><strong>Conclusions: </strong>This is the first report on the detection of FHA in the first trimester of pregnancy. Slow<i>flow</i>HD may be a useful diagnostic modality to evaluate human vascular development, such as FHA <i>in utero</i>.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240025"},"PeriodicalIF":0.1,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981756","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
Acute fatty liver of pregnancy with transient resolution preceding postpartum liver failure requiring liver transplant. 妊娠期急性脂肪肝,产后肝功能衰竭需肝移植前短暂缓解。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-10-08 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0028
Rachel Lee, Kimberly Herrera, James Bernasko
{"title":"Acute fatty liver of pregnancy with transient resolution preceding postpartum liver failure requiring liver transplant.","authors":"Rachel Lee, Kimberly Herrera, James Bernasko","doi":"10.1515/crpm-2024-0028","DOIUrl":"https://doi.org/10.1515/crpm-2024-0028","url":null,"abstract":"<p><strong>Objectives: </strong>Acute fatty liver of pregnancy (AFLP) is a rare, potentially fatal complication of unknown etiology that occurs in the third trimester or early postpartum and can be associated with adverse maternal and fetal outcomes. The purpose of this report is to share a case of AFLP in which a period of objective and symptomatic resolution preceded delayed postpartum liver failure and liver transplant.</p><p><strong>Case presentation: </strong>A 35-year-old G3P0020 female experienced preterm premature rupture of membranes (PPROM) at 32 weeks' gestation and AFLP. She delivered vaginally and despite apparent initial disease resolution, was found 22 days later to have fulminant acute liver failure that required liver transplantation.</p><p><strong>Conclusions: </strong>AFLP should be monitored closely postpartum even if disease parameters initially appear to resolve after delivery.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240028"},"PeriodicalIF":0.1,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978366","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 thrombosis diagnosed by fetal ultrasound. 胎儿超声诊断脐动脉血栓形成。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-09-12 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0017
Yushi Abe, Kazunori Ueno, Saki Tamura, Haruko Ariga, Jun Miyauchi, Hiroyuki Nakagawa
{"title":"Umbilical artery thrombosis diagnosed by fetal ultrasound.","authors":"Yushi Abe, Kazunori Ueno, Saki Tamura, Haruko Ariga, Jun Miyauchi, Hiroyuki Nakagawa","doi":"10.1515/crpm-2024-0017","DOIUrl":"https://doi.org/10.1515/crpm-2024-0017","url":null,"abstract":"<p><strong>Objectives: </strong>Umbilical artery thrombosis (UAT) is a rare and severe condition associated with grave perinatal outcomes, including intrauterine fetal death. This case report presents the case of a 38-year-old woman (gravida 3, para 1) of Japanese ethnicity, with a history of one spontaneous miscarriage, who conceived through micro-insemination and blastocyst transfer.</p><p><strong>Case presentation: </strong>Initial patient screening at 30 weeks and 6 days of gestation revealed normal fetal development, with two umbilical arteries and one umbilical vein. However, at 34 weeks and 5 days of gestation, we observed reduced fetal movements and the absence of accelerations on cardiotocography. Subsequent color Doppler examination revealed cessation of blood flow across a broad area in one umbilical artery and a strongly curved umbilical vein surrounding the blood flow of the other artery. These formed the 'orange grab sign,' suggestive of UAT. Evaluations of blood flow in other areas revealed unremarkable findings. We performed an emergency cesarean section owing to fetal distress. The mother and newborn were healthy and discharged as healthy. The 1-month check-up revealed no abnormalities in the child. Pathological examination of the umbilical cord revealed fibrin-based thrombus formation along the length of one artery, confirmed to be an umbilical artery.</p><p><strong>Conclusions: </strong>In the present case report, we presented the diagnostic challenges of UAT. Furthermore, we highlighted the need for timely intervention by comparing the number of umbilical vessels among previous ultrasound findings and verifying the presence of the 'orange grab sign.'</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240017"},"PeriodicalIF":0.1,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966985","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
Novel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review. 双眼无眼伴严重内分泌功能障碍患者RAX基因纯合突变1例并文献复习。
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-09-12 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0018
Yasmin H A El-Nahry, Victor Bardinet, Christoph Bührer, Wolfgang Henrich
{"title":"Novel homozygous mutation in the human <i>RAX</i> homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review.","authors":"Yasmin H A El-Nahry, Victor Bardinet, Christoph Bührer, Wolfgang Henrich","doi":"10.1515/crpm-2024-0018","DOIUrl":"https://doi.org/10.1515/crpm-2024-0018","url":null,"abstract":"<p><strong>Objectives: </strong>Childhood visual impairment due to congenital malformation leads to severe handicaps and lifelong consequences for the affected child. Congenital anophthalmia remains a rare condition marked by a child born with an empty eye socket. The embryonic plant of the eye occurs approximately on day 22 of intrauterine development and ends within the first trimester of pregnancy. Mutations in the <i>RAX</i> gene located on chromosome 18 (# 601881) cause a spectrum of head malformations, ranging from isolated microphthalmia/anophthalmia with cleft lip and palate to complex brain malformations.</p><p><strong>Case presentation: </strong>Here, we present a child's case diagnosed with bilateral anophthalmia at 33 weeks of gestation. The newborn was delivered vaginally with a <i>RAX</i>-gene-linked syndrome. Besides craniofacial malformations (bilateral anophthalmia, craniofacial hypoplasia, bilateral cleft lip), the female child had severe endocrine dysfunction (congenital hypopituitarism and diabetes insipidus) postnatal that required specialised monitoring and clinical management. Our case study reports a novel homozygous autosomal recessive non-sense mutation (c.106G>T; p.Glu36Ter) of the <i>RAX</i> gene. This is the first description of this pathogenic gene variant in the literature.</p><p><strong>Conclusions: </strong>Early and precise sonography is crucial in detecting these conditions on time to prepare postpartum care and avoid delays in optimal clinical treatment for the affected child. This case report aims to raise the scientific community's awareness about this rare genetic syndrome, showing an individualised two-year follow-up program that could help guide physicians and future parents of affected children.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240018"},"PeriodicalIF":0.1,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980461","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
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