Pediatric and Developmental Pathology最新文献_第3页

Bacillus cereus Sepsis in Preterm Neonates Caused by Central Venous Catheter: A Case Report.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-31 DOI: 10.1177/10935266251316754

Li Xiaoxiao, Long Dianfa, Xu Hui, Yang Min

引用次数: 0

Bilateral Renal Fungal Bezoars and Perinephric Abscess in an Infant With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Clinico-pathologic Case Report.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-24 DOI: 10.1177/10935266241312364

Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine

{"title":"Bilateral Renal Fungal Bezoars and Perinephric Abscess in an Infant With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Clinico-pathologic Case Report.","authors":"Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine","doi":"10.1177/10935266241312364","DOIUrl":"https://doi.org/10.1177/10935266241312364","url":null,"abstract":"The patients with Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome have genetic susceptibility to the opportunistic infections due to the involvement of VPS33B (vacuolar protein sorting 33 homolog B) in phagolysosome fusion in macrophages. Detailed pathologic studies in ARC patients are missing in literature due to the lack of autopsy. We described the first autopsy case of ARC syndrome in a 2-month-old male infant. His death was due to recurrent sepsis and multiorgan failure despite the appropriate poly-antibiotic therapy and supportive care. The autopsy showed invasive renal candidiasis including bilateral destructive pyelonephritis, pelvic obstructive fungal bezoars, and right large perinephric abscess. The main other findings included severe chronic liver changes and pneumonia. Liver exhibited intrahepatocyte cholestasis, large multinucleated hepatocytes, diffuse portal, bridging and perivenular fibrosis, and interlobular bile duct proliferation. The neuropathologic examination was unremarkable. This case report highlights 3 novel findings. The ARC syndrome-related immunodeficiency may predispose to renal fungal bezoars and perinephric abscess. Cholestatic stress may result in the proliferation of interlobular ducts as an adaptive response. Absence of spinal motor neuron degeneration suggests that the neurogenic amyotrophy is due to the lack of synaptic vesicle trafficking and membrane fusion rather than the defect in cell survival-related autophagosome-lysosome fusion.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241312364"},"PeriodicalIF":1.3,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143043367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fibrosarcomatous Dermatofibrosarcoma Protuberans With COL1A1-PDGFB Fusion in a 2-Year-Old Child: A Rare Occurrence With Spectrum of Histopathological Findings and Review of Literature. 2岁儿童纤维肉瘤性皮肤纤维肉瘤隆突合并COL1A1-PDGFB融合：罕见的组织病理学发现和文献回顾。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-21 DOI: 10.1177/10935266251313604

Sumanta Das, Jayati Sarangi, Sunita Ahlawat, Priti Jain, Priya Tiwari

{"title":"Fibrosarcomatous Dermatofibrosarcoma Protuberans With COL1A1-PDGFB Fusion in a 2-Year-Old Child: A Rare Occurrence With Spectrum of Histopathological Findings and Review of Literature.","authors":"Sumanta Das, Jayati Sarangi, Sunita Ahlawat, Priti Jain, Priya Tiwari","doi":"10.1177/10935266251313604","DOIUrl":"https://doi.org/10.1177/10935266251313604","url":null,"abstract":"Dermatofibrosarcoma protuberans (DFSP) is an intermediate-grade fibroblastic neoplasm commonly seen in young and middle-aged patients and rarely in pediatric patients. Fibrosarcomatous transformation is common in adults but extremely uncommon in children. Here, we present a case of a 2-year-old child who presented with a progressively enlarging subcutaneous mass in the knee. Histopathological examination revealed a spindle cell tumor with a storiform and fascicular pattern. Immunohistochemistry showed variable cluster of differentiation 34 (CD34) expression, with positivity in storiform areas and negativity in fascicular regions. Next-generation sequencing confirmed the diagnosis by detecting a collagen type I alpha 1 (COL1A1)-platelet-derived growth factor subunit B (PDGFB) fusion, with the PDGFB breakpoint in exon 2 (chromosome 22) and COL1A1 in intron 47 (chromosome 17). This case represents only the fifth reported instance of fibrosarcomatous DFSP in a child under 10 years old. While wide local excision remains the standard treatment for DFSP, targeted therapy with imatinib may be considered for unresectable, recurrent, or metastatic cases, though guidelines for pediatric patients are not yet established. This case highlights the importance of molecular testing in confirming the diagnosis of rare pediatric soft tissue tumors and contributes to the limited literature on fibrosarcomatous DFSP in very young children.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251313604"},"PeriodicalIF":1.3,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143016549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression. 印度儿童肝硬化2例文献复习及金属硫蛋白免疫组化表达意义

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-10 DOI: 10.1177/10935266241312362

Mukul Vij, Vaibhav Shah, Aashay Abhay Shah

{"title":"Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression.","authors":"Mukul Vij, Vaibhav Shah, Aashay Abhay Shah","doi":"10.1177/10935266241312362","DOIUrl":"https://doi.org/10.1177/10935266241312362","url":null,"abstract":"Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1 male and 1 female. Both children were less than 3 years of age. Presenting complaints were jaundice and hepatosplenomegaly. The clinical diagnosis was metabolic liver disease. Histological findings included diffuse hepatocellular ballooning degeneration, prominent Mallory Denk bodies, diffuse pericellular fibrosis, and marked copper/copper-associated protein deposits, along with the absence of steatosis and glycogenated nuclei. Mettalothionein immunohistochemistry was performed in 1 case and showed strong positivity. The first child developed liver failure and died. The second child was started on oral penicillamine therapy and is alive on the most recent follow-up. Whole-exome studies of both patients showed no significant findings. None of the children had exposure to excess dietary copper. Sporadic cases of Indian childhood cirrhosis continue to occur. There should be greater awareness among pediatricians and pathologists of the disease to enable earlier diagnosis. Awareness of metallothionein expression in biopsies of patients with Indian childhood cirrhosis is important to prevent misdiagnosis of Wilson disease.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241312362"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparison of Clinical Diagnosis and Autopsy Findings of Early Neonatal Deaths: Diagnostic Challenges and the Value of Autopsy in Identifying Rare Pathologies. 新生儿早期死亡的临床诊断与尸检结果比较：诊断挑战与尸检在鉴别罕见病症方面的价值。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-10-11 DOI: 10.1177/10935266241288869

Jan-Theile Suhren, Kais Hussein, Hans Kreipe, Nora Schaumann

{"title":"Comparison of Clinical Diagnosis and Autopsy Findings of Early Neonatal Deaths: Diagnostic Challenges and the Value of Autopsy in Identifying Rare Pathologies.","authors":"Jan-Theile Suhren, Kais Hussein, Hans Kreipe, Nora Schaumann","doi":"10.1177/10935266241288869","DOIUrl":"10.1177/10935266241288869","url":null,"abstract":"Background: In a non-forensic hospital setting, neonatal death within the first week of life is often related to premature birth and/or lung diseases. Without post-mortem examination, the identification of the cause of death may be challenging. Autopsy can confirm the clinical diagnosis, uncover additional information or change the diagnosis. Our study aimed to assess the correlation between the clinical diagnosis and post-mortem findings in early neonatal deaths.Methods: The retrospective study included autopsy cases with neonatal deaths within the first 7 days of life (arbitrary time interval 2006-2021). Discrepancies between clinical and histopathological findings were classified into 3 groups: (i) full agreement, (ii) additional findings discovered by autopsy, or (iii) autopsy changed the diagnosis.Results: A cohort of 27 cases could be identified and lung pathologies were the most common finding (56%). Additional findings could be discovered in 48% of cases. Major discrepancies which changed the clinical diagnosis could be found in 11% (n = 3/27) of cases.Conclusion: Frequently, post-mortem examinations validate the clinical diagnosis while revealing crucial information in a few cases. In these discrepant cases, autopsy findings can provide information for genetic counselling and quality control of clinical management.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"38-45"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment. 卡萨马西玛-莫顿-南斯综合征和肢体-体壁缺损：第二例病例及表型评估。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-26 DOI: 10.1177/10935266241281797

Víctor M Salinas-Torres, Rafael A Salinas-Torres

引用次数: 0

Sarcomatoid Morphology in Pediatric Langerhans Cell Neoplasm Does Not Always Predict Aggressive Clinical Course. 小儿朗格汉斯细胞肿瘤中的肉瘤样形态并不总能预测侵袭性临床病程。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-28 DOI: 10.1177/10935266241281517

Sam Sirotnikov, Louis P Dehner, José E Velázquez Vega, Jinjun Cheng

引用次数: 0

Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology. 6 例 II 型成骨不全胎的病例系列：心脏病理学回顾性研究。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-08-27 DOI: 10.1177/10935266241272511

Sara J E Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha, Joost G van den Aardweg, Otto Kamp, Elisabeth M W Eekhoff, Marianna Bugiani

{"title":"Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology.","authors":"Sara J E Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha, Joost G van den Aardweg, Otto Kamp, Elisabeth M W Eekhoff, Marianna Bugiani","doi":"10.1177/10935266241272511","DOIUrl":"10.1177/10935266241272511","url":null,"abstract":"Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap.Methods: Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in COL1A1 or PPIB, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry.Results: Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies.Conclusion: This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"24-30"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rare Hybrid Perineurioma and Granular Cell Tumor: A Pediatric Case. 罕见的混合性会厌瘤和颗粒细胞瘤：一个小儿病例

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-09 DOI: 10.1177/10935266241274529

Kennedy H Sun, Sonia P Goyal, Evelyn M Kim, Esperanza Mantilla-Rivas, Gary F Rogers, Sam P Gulino

引用次数: 0

Exploring the Impact and Prospects of Social Media in Advancing Pediatric Pathology. 探索社交媒体在推动儿科病理学发展方面的影响和前景。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-26 DOI: 10.1177/10935266241284039

Casey P Schukow, Charles Herndon, Oscar F Lopez-Nunez, Sonja D Chen, Samir Kahwash

引用次数: 0