Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society最新文献

Umbilical Vessel Aneurysm Presenting a Large Placental Cyst: A Unique Case and Literature Review. 脐血管动脉瘤并发大胎盘囊肿：一例独特病例并文献复习。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-07-02 DOI: 10.1177/10935266251352897

Veronique Schiffer, Ina Thijs, Salwan Al-Nasiry, Stijn van Teeffelen, Carmen Severens-Rijvers

{"title":"Umbilical Vessel Aneurysm Presenting a Large Placental Cyst: A Unique Case and Literature Review.","authors":"Veronique Schiffer, Ina Thijs, Salwan Al-Nasiry, Stijn van Teeffelen, Carmen Severens-Rijvers","doi":"10.1177/10935266251352897","DOIUrl":"https://doi.org/10.1177/10935266251352897","url":null,"abstract":"We present a unique case of a 33-year-old gravida that was referred to our hospital with an umbilical vessel aneurysm presenting as a large placental cyst on ultrasound. Although the 20-week anomaly scan showed no structural abnormalities, routine fetal biometry scanning at 30 weeks of gestation revealed an abnormal placental cystic structure, located subchorionic under the umbilical cord insertion. Given the uncertainty of the origin of the structure's origin and its unpredictable evolution with possible adverse effect on the fetus, a cesarean section was performed delivering a healthy baby. Histopathological examination of the placenta showed an aneurysmal vein with thinning of the vessel wall and fragmented smooth muscle. Umbilical cord aneurysm represents an exceptionally rare placental anomaly, with umbilical vein aneurysms being associated with variable fetal mortality rates, ranging from those observed in uncomplicated pregnancies to 82% in documented cases. Therefore, a multidisciplinary approach is essential to optimize fetal outcomes.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251352897"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546827","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}

引用次数: 0

A Retrospective Review of Autopsy Data From 6 North American Institutions Indicates Practice Variations That Could Be Leveraged to Address Declining Autopsy Rates. 对6家北美机构尸检数据的回顾性分析表明，可以利用实践变化来解决尸检率下降的问题。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-27 DOI: 10.1177/10935266251346988

Anita Nagy, Colleen Collins, Linda J Szymanski, Bruce R Pawel, Portia A Kreiger, Tricia Bhatti, Murillo Olivia, Erin Rudzinski, Jeanette Reyes, Melissa Blessing, Kudakwashe Chikwava, Juan Putra, Chrystalle Katte Carreon

引用次数: 0

Childhood Lupus-Associated Protein-Losing Enteropathy (LUPLE): A Case Report and Review of the Literature. 儿童狼疮相关蛋白丢失性肠病（LUPLE）： 1例报告及文献回顾。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-20 DOI: 10.1177/10935266251349494

Ozlem Sumer Cosar, Hakan Öztürk, Deniz Gezgin Yıldırım, Batuhan Küçükali, Buket Dalgıç, Ödül Eğritaş Gürkan

{"title":"Childhood Lupus-Associated Protein-Losing Enteropathy (LUPLE): A Case Report and Review of the Literature.","authors":"Ozlem Sumer Cosar, Hakan Öztürk, Deniz Gezgin Yıldırım, Batuhan Küçükali, Buket Dalgıç, Ödül Eğritaş Gürkan","doi":"10.1177/10935266251349494","DOIUrl":"10.1177/10935266251349494","url":null,"abstract":"Protein-losing enteropathy (PLE) is a rare condition characterized by clinical findings such as edema, ascites, pleural effusion, and diarrhea due to excessive protein loss from the gastrointestinal system. Although systemic lupus erythematosus (SLE) is rare in childhood, PLE can be the first presenting feature; this condition is referred to as lupus-associated protein-losing enteropathy (LUPLE). Protein-losing enteropathy (PLE) is an uncommon condition resulting from excessive protein loss in the gastrointestinal system. Our case shows that PLE can be the initial presentation of SLE, which is a rare manifestation in childhood. PLE, a rare complication of lupus, tends to be more severe in children, and the diagnostic process can be challenging. This case report presents a 7-year-old girl who presented with abdominal distension, generalized edema, chronic diarrhea, and weakness. Despite treatment, the recurrence of symptoms and the addition of new joint findings led to further investigations, which revealed positive anti-dsDNA and low complement levels, resulting in a diagnosis of systemic lupus erythematosus. The patient's clinical condition improved with steroid, azathioprine, and hydroxychloroquine treatments. This case highlights the importance of considering SLE in the differential diagnosis of PLE and underscores the significance of recognizing the rare presentations of childhood lupus.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251349494"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334830","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}

引用次数: 0

Neuropathologic Findings in Lennox-Gastaut Syndrome (SCN2A-Related): A Case Report and Review of Literature. lenox - gastaut综合征（scn2a相关）的神经病理表现：1例报告及文献复习。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-19 DOI: 10.1177/10935266251345684

Conner Thompson, Katsiaryna Khatskevich, Cynthia T Welsh, Tiffany G Baker, Daniel C Butler

{"title":"Neuropathologic Findings in Lennox-Gastaut Syndrome (SCN2A-Related): A Case Report and Review of Literature.","authors":"Conner Thompson, Katsiaryna Khatskevich, Cynthia T Welsh, Tiffany G Baker, Daniel C Butler","doi":"10.1177/10935266251345684","DOIUrl":"https://doi.org/10.1177/10935266251345684","url":null,"abstract":"Lennox-Gastaut syndrome is a form of severe childhood epilepsy caused by a variety of etiologies including structural abnormalities, inflammatory conditions affecting the brain, malignancy, injury, or unknown causes. Sodium channelopathies have been linked to multiple seizure disorders, including Lennox-Gastaut syndrome, due to their role in action potential propagation in the brain. SCN2A is one such voltage gated sodium channel found primarily in the central nervous system. We present a case of a 6-year-old female with Lennox-Gastaut syndrome and a heterozygous SCN2A variant who became unresponsive during a supervised bath and later died. The neuropathologic exam was remarkable for dentato-olivary dysplasia, among other gross and microscopic abnormalities. We present this case highlighting rarely documented neuropathologic findings in Lennox-Gastaut syndrome associated with a channelopathy (SCN2A variant) as well as a review of literature of previously reported brain abnormalities in patients with SCN2A variants.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251345684"},"PeriodicalIF":0.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328470","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}

引用次数: 0

SOX2 Expression and Regulation in Pulmonary Aplasia/Agenesis. SOX2在肺发育不全中的表达及调控。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-17 DOI: 10.1177/10935266251349491

Apostolou Alexia, Joubert Madeleine, Poreau Brice, Piolat Christian, Arbez Gindre Francine, Nemos Christophe, Sartelet Herve

{"title":"SOX2 Expression and Regulation in Pulmonary Aplasia/Agenesis.","authors":"Apostolou Alexia, Joubert Madeleine, Poreau Brice, Piolat Christian, Arbez Gindre Francine, Nemos Christophe, Sartelet Herve","doi":"10.1177/10935266251349491","DOIUrl":"https://doi.org/10.1177/10935266251349491","url":null,"abstract":"Background: Pulmonary agenesis is characterized by the absence of bronchi and lung parenchyma and it differs from pulmonary aplasia by the presence of rudimentary bronchial buds. SOX2 expression is observed during the normal course of lung development. The objective of this study is to investigate the expression of SOX2 and its regulation in the residual airway epithelium of pulmonary agenesis/aplasia.Methods: Six cases of pulmonary agenesis/aplasia aged between 12 and 37 weeks of gestation and 6 age-matched controls were studied. Immunochemistry was performed using primary antibodies against SOX2, BMP4, FGF9, FGF10, TTF1, SHH, and beta-catenin.Results: In sections of bronchi or trachea from lung agenesis or aplasia, the residual epithelium shows a high nuclear expression of SOX2 and an absence of expression of BMP4 as in the esophagus whereas in control cases, the airway epithelium shows an absence of expression of SOX2 and a high expression of BMP4. There were no differences between control and agenesis/aplasia cases concerning the expression of FGF9, FGF10, SHH, TTF1, and beta-catenin.Conclusion: The expression of SOX2 and BMP4 is strongly altered in pulmonary agenesis/aplasia. Thus, these proteins appear to regulate tissue-specific proliferative activity during early lung development.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251349491"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319202","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}

引用次数: 0

Umbilical Cord Weight Index Correlated with Fetal Birth Weight and Associated with Placental and Umbilical Cord Abnormalities. 脐带重量指数与胎儿出生体重相关，并与胎盘和脐带异常相关。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-17 DOI: 10.1177/10935266251349487

Peilin Zhang, Octavio Armas, Art Mendoza, Chris Wixom, Omid Bakhtar, Raymond Redline, Jenelle Coon, Lana Kabakibi

{"title":"Umbilical Cord Weight Index Correlated with Fetal Birth Weight and Associated with Placental and Umbilical Cord Abnormalities.","authors":"Peilin Zhang, Octavio Armas, Art Mendoza, Chris Wixom, Omid Bakhtar, Raymond Redline, Jenelle Coon, Lana Kabakibi","doi":"10.1177/10935266251349487","DOIUrl":"https://doi.org/10.1177/10935266251349487","url":null,"abstract":"Background: Umbilical cord consists of 2 arteries and 1 vein embedded in Wharton's jelly. Umbilical cord weight has not been examined for fetal growth and placental pathology.Materials and methods: We have assessed umbilical cord by measuring the weight and the length during placental examination. The cord weight index (CWI) was defined as an average weight of 10 cm cord, and the normal ranges of cord diameter and CWI were established as 10th to 90th percentile.Results: A total of 520 cases of umbilical cord were examined. Normal ranges of 10th to 90th percentile of cord diameter and CWI were established. Light cord was defined as less than 10th percentile and heavy cord was greater than 90th percentile of CWI. Light cord was significantly associated with decreased cord diameter, lower placental and fetal birth weight, female sex, nuchal cord, and IUGR, while heavy cord was significantly associated with increased cord diameter, increased BMI, male sex, diabetes mellitus, and decreased maternal and fetal inflammatory responses.Conclusion: Our data demonstrated that CWI is a novel and superior measure of cord development to diameter, and CWI can add value, providing preliminary evidence for more rigorous study and for incorporating CWI in placental examination.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251349487"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311207","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}

引用次数: 0

Placental Pathology Reporting Practices in Australian Stillbirths: A Quality Review. 澳大利亚死产胎盘病理报告实践：质量回顾。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-17 DOI: 10.1177/10935266251349492

Tania Marsden, Teck Yee Khong, Jane E Dahlstrom, Fran Boyle, Mu Cheng, Yin Ping Wong, Stacey Prystupa, Gretchen Pomare, Joanna Perry-Keene, Vicki Flenady, Jessica Sexton

{"title":"Placental Pathology Reporting Practices in Australian Stillbirths: A Quality Review.","authors":"Tania Marsden, Teck Yee Khong, Jane E Dahlstrom, Fran Boyle, Mu Cheng, Yin Ping Wong, Stacey Prystupa, Gretchen Pomare, Joanna Perry-Keene, Vicki Flenady, Jessica Sexton","doi":"10.1177/10935266251349492","DOIUrl":"https://doi.org/10.1177/10935266251349492","url":null,"abstract":"Background: Stillbirth continues to pose a significant public health challenge. Autopsy and placental assessments are recognized as the gold standard for stillbirth investigation. The utility of these procedures can vary based on the quality of the examination. The aim of this study is to determine the quality of placenta pathology reporting in Australia in the context of a stillbirth.Materials and methods: Placenta pathology reports from stillbirths were reviewed from 18 maternity hospital from 2013 to 2018. The Khong tool was used to produce a placenta quality score (PQS), by a blinded panel of assessors to the cause of death. Outcome measures were the number of reports achieving the minimal acceptable score (MAS) of 75% or a poor score (PS) of 50% of the PQS.Results: 560 placental pathology reports of which 494 were singleton and 66 were twin placentas. 282 (50%) achieved the MAS score. Macroscopic items were recorded well and microscopic items recorded poorly.Conclusions: The standard of placenta pathology reporting can be improved in Australia. The use of templates or checklists for both macroscopic descriptions and histological reporting is recommended to ensure all key components are described.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251349492"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311206","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}

引用次数: 0

Primary Gastrointestinal Iatrogenic Kaposi Sarcoma: A Rare Pediatric Case Report. 原发性胃肠医源性卡波西肉瘤：一罕见小儿病例报告。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-06-14 DOI: 10.1177/10935266251345690

Nil Urganci, Ayse Mine Onenerk Men, Nuray Kepil, Rahsan Ozcan, Nil Comunoglu

引用次数: 0

Infant With a Severe Form of GLRX5-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy. 婴儿与glrx5相关的严重形式的不典型高血糖在尸检中表现出新的心脏和神经疾病的表现

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-05-26 DOI: 10.1177/10935266251335065

Elizabeth O Ferreira, Marc R Del Bigio, Jason Morin, Patrick Frosk

引用次数: 0

Lethal Neonatal Pulmonary Hypertension in Trisomy 21 (T21) Likely Due to Congenital Portosystemic Shunts. 21三体（T21）致死性新生儿肺动脉高压可能由先天性门静脉分流引起。

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2025-05-24 DOI: 10.1177/10935266251343287

Rachel Guest, Dilshad Dhaliwal, Darryl Kinnear, Debra Kearney, Nahir Cortes-Santiago, Nidhy Varghese, Kalyani R Patel

{"title":"Lethal Neonatal Pulmonary Hypertension in Trisomy 21 (T21) Likely Due to Congenital Portosystemic Shunts.","authors":"Rachel Guest, Dilshad Dhaliwal, Darryl Kinnear, Debra Kearney, Nahir Cortes-Santiago, Nidhy Varghese, Kalyani R Patel","doi":"10.1177/10935266251343287","DOIUrl":"https://doi.org/10.1177/10935266251343287","url":null,"abstract":"Children with Trisomy 21 (T21) have an increased incidence of pulmonary hypertension (PHTN); most commonly due to congenital heart/lung diseases but also in conjunction with other T21-associated gastrointestinal and metabolic abnormalities. This report describes a 2 days old, full-term male neonate with T21, without significant cardiac anomalies presenting with severe hypoxic respiratory failure eventually leading to death. Autopsy confirmed T21-associated dysmorphic features and revealed both extra and intrahepatic congenital portosystemic shunts (CPSS). Additionally, the liver demonstrated dilated hepatic and portal veins and mildly altered lobular architecture without any focal lesions. Bilateral lungs showed mild alveolar maldevelopment, double capillary loops, and normal lung to body weight ratio without vascular hypertensive changes. This case underscores the importance of careful examination of the liver hilum and considering CPSS as a potential etiology of PHTN in neonates with T21 in the absence of cardiac defects or significant lung disease.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251343287"},"PeriodicalIF":0.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136627","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}

引用次数: 0