Pediatric and Developmental Pathology最新文献

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A Case of Acute Hemorrhagic Necrotizing Encephalitis in the Neonatal Period: Case Report with Autopsy Findings.
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2025-02-13 DOI: 10.1177/10935266251319093
Nkechi Okotcha, Nicholas Guerina, Suzanne de la Monte, Rachit Patil
{"title":"A Case of Acute Hemorrhagic Necrotizing Encephalitis in the Neonatal Period: Case Report with Autopsy Findings.","authors":"Nkechi Okotcha, Nicholas Guerina, Suzanne de la Monte, Rachit Patil","doi":"10.1177/10935266251319093","DOIUrl":"https://doi.org/10.1177/10935266251319093","url":null,"abstract":"<p><p>Acute necrotizing encephalopathy (ANE) is a rare immune-mediated disease in children that could progress rapidly, and lead to significant morbidity or mortality. ANE's diagnostic challenges render it difficult to recognize and treat in a timely and effective manner. Although infantile-onset cases have been reported, the presentation of ANE in preterm neonates has not been described. Herein, we report a case of a preterm newborn who had a relatively stable clinical course in the first week of life, after which the neonate exhibited sudden deterioration due to progressive encephalopathy with refractory status epilepticus. Despite aggressive management of seizures and sepsis, the patient succumbed. Whole-exome sequencing analyses of the patient and parents were negative. Viral and metabolic testing were non-contributory. An autopsy showed evidence of acute to subacute fulminant liquefactive necrosis with extensive hemorrhage diffusely in the cortex with relative sparing of the cerebellum and the brainstem. A major consideration highlighted by this case is that the adaptive immune response to the immune-mediated or cytokine storm-related proposed etiology of acute necrotizing encephalopathy may differ in preterm compared with full-term infants due to properties dictated by their innate immune responses. Clinical suspicion of ANE should be heightened whenever preterm neonates with early sepsis continue to deteriorate despite aggressive management.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251319093"},"PeriodicalIF":1.3,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411406","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
A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report.
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2025-02-13 DOI: 10.1177/10935266251319571
Sihem Darouich, Samia Darouich, Dorsaf Gtari, Houda Bellamine
{"title":"A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in <i>GATA6</i>: A Fetal Case Report.","authors":"Sihem Darouich, Samia Darouich, Dorsaf Gtari, Houda Bellamine","doi":"10.1177/10935266251319571","DOIUrl":"https://doi.org/10.1177/10935266251319571","url":null,"abstract":"<p><p>Hypoplastic right heart syndrome (HRHS) is an uncommon congenital cardiac defect, characterized by variable underdevelopment of the right-sided heart structures. We report on a case of HRHS in a 25-week female fetus. Prenatal karyotype was normal. Autopsy performed following pregnancy termination demonstrated characteristic craniofacial dysmorphism and complex congenital heart disease encompassing severe hypoplasia of the right ventricle, main pulmonary artery and tricuspid valve, ostium secundum atrial septal defect, and ductus arteriosus agenesis. Macroscopic and histologic examinations of the brain and organs were unremarkable. Post-mortem array CGH didn't detect any unbalanced chromosomal abnormalities. Exome and Sanger sequencing revealed a novel de novo heterozygous missense variant in <i>GATA6</i> (NM_005257.6:c.1385A>G) which is located in the hotspot exon 4 encoding the highly conserved C-terminal zinc finger domain. This report ascertains that GATA6 haploinsufficiency may cause a cardiocraniofacial syndrome consisting of distinctive craniofacial dysmorphism and HRHS.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251319571"},"PeriodicalIF":1.3,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411405","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
Validation of A Nationwide Digital Pediatric Pathology Consultation Network.
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2025-02-10 DOI: 10.1177/10935266251316782
Haiying Chen, Juan Putra, Anita Nagy, Jefferson Terry, Dina El Demellawy, Joseph de Nanassy, Erica Schollenberg, Aaron Haig, Camelia Stefanovici, Kathryn Whelan, Alysa Poulin, Dorothee Dal Soglio, Zesheng Chen, Brian Smith, Cindy Fiore, Gino R Somers
{"title":"Validation of A Nationwide Digital Pediatric Pathology Consultation Network.","authors":"Haiying Chen, Juan Putra, Anita Nagy, Jefferson Terry, Dina El Demellawy, Joseph de Nanassy, Erica Schollenberg, Aaron Haig, Camelia Stefanovici, Kathryn Whelan, Alysa Poulin, Dorothee Dal Soglio, Zesheng Chen, Brian Smith, Cindy Fiore, Gino R Somers","doi":"10.1177/10935266251316782","DOIUrl":"https://doi.org/10.1177/10935266251316782","url":null,"abstract":"<p><strong>Background: </strong>Digital pathology facilitates remote pathology consultations. Pediatric pathologists in Canada formed a nationwide digital pathology consultation network, mostly for second opinion review of pediatric cancer cases. Validation of such a large network for clinical use is challenging. Here we report our unique validation process of this digital pathology network.</p><p><strong>Method: </strong>This study was designed in keeping with the College of American Pathologist (CAP) guidelines, and included 14 pathologists from 9 hospitals across Canada. All cases are pediatric pathology cases. Each pathologist reviewed multiple digital cases and the corresponding glass slide cases. For each review, intra-observer concordance (diagnosis on digital case versus diagnosis on glass slide case) was recorded, creating a data point.</p><p><strong>Result: </strong>The study generated 269 valid diagnostic data points. Out of the 269 data points, 257 were concordant (95.5% concordance), exceeding the CAP recommendation of 95% concordance. Thus, the network was successfully validated.</p><p><strong>Conclusion: </strong>This is a unique validation study for a large nationwide digital pediatric pathology network. The study involved all pathologists/hospitals in the network, closely emulating real world clinical process. The network was successfully validated.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251316782"},"PeriodicalIF":1.3,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384005","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
Genetically Distinct Acute Megakaryoblastic Leukemia following Low Hypodiploid B-Lymphoblastic Leukemia linked by TP53 Mutation.
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2025-02-03 DOI: 10.1177/10935266251316150
Jaryse C Harris, Jeffrey Schubert, Brian Lockhart, Rachel Olson, Michele E Paessler, Elizabeth Margolskee, Vinodh Pillai, Jinhua Wu, Netta Golenberg, Jiani Chen, Elizabeth H Denenberg, Tammy Luke, Minjie Luo, Yiming Zhong, Marilyn M Li, Gerald B Wertheim
{"title":"Genetically Distinct Acute Megakaryoblastic Leukemia following Low Hypodiploid B-Lymphoblastic Leukemia linked by <i>TP53</i> Mutation.","authors":"Jaryse C Harris, Jeffrey Schubert, Brian Lockhart, Rachel Olson, Michele E Paessler, Elizabeth Margolskee, Vinodh Pillai, Jinhua Wu, Netta Golenberg, Jiani Chen, Elizabeth H Denenberg, Tammy Luke, Minjie Luo, Yiming Zhong, Marilyn M Li, Gerald B Wertheim","doi":"10.1177/10935266251316150","DOIUrl":"https://doi.org/10.1177/10935266251316150","url":null,"abstract":"<p><p>We report a case of acute myeloid leukemia with megakaryoblastic differentiation (AMKL) that developed after an initial B-lymphoblastic leukemia (B-ALL) with low hypodiploidy. Although the AMKL was initially thought either to be a phenotypic change from the original B-ALL or to have arisen as a result of treatment (acute myeloid leukemia, post cytotoxic therapy, AML-pCT [WHO]; AML, therapy related [ICC]), genetic evaluation of both the AMKL and the B-ALL suggest that neither of these considerations was correct. Rather, the AMKL did not harbor the most common genetic hallmark of AML-pCT-rearrangement of <i>KMT2-</i> and was genetically distinct from the B-ALL. Both the B-ALL and the AMKL, however, showed an identical <i>TP53</i> mutation by next generation sequencing (NGS), while germline testing was negative for this mutant allele. Hence, either the patient had a tissue restricted constitutional <i>TP53</i> mutation or had a somatic mutation in a multipotent hematopoietic precursor. This case highlights the necessity for close monitoring of patients with <i>TP53</i>-mutant tumors, as they may develop multiple lesions despite negative germline testing.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251316150"},"PeriodicalIF":1.3,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081621","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
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
{"title":"<i>Bacillus cereus</i> Sepsis in Preterm Neonates Caused by Central Venous Catheter: A Case Report.","authors":"Li Xiaoxiao, Long Dianfa, Xu Hui, Yang Min","doi":"10.1177/10935266251316754","DOIUrl":"https://doi.org/10.1177/10935266251316754","url":null,"abstract":"<p><p>In recent years, <i>Bacillus cereus</i> infection has emerged as a main concern in the field of children's public health. This bacterium, known to be a pollutant, can be found in various settings such as hospital wards, equipment, breast milk, nutrient solution, and so on. With its high pathogenicity and toxicity, <i>Bacillus cereus</i> infection can lead to severe and life-threatening symptoms, particularly in premature infants. This case report documents the death of a preterm infant due to <i>Bacillus cereus</i> sepsis, septic shock, meningitis, and pneumonia, all of which were linked to the use of a central venous catheter.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251316754"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069554","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
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":"<p><p>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.</p>","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":"<p><p>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.</p>","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":"<p><p>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.</p>","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
Variant Pseudocystic Desmoplastic Small Round Cell Tumor With Heterologous Mullerian Cysts. 异源苗勒管囊肿的变异型假囊性结缔组织增生小圆细胞瘤。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2025-01-09 DOI: 10.1177/10935266241312435
Eric I Nayman, Carole Brathwaite, Felipe Pedroso, Maggie E Fader, Farres Obeidin, Louis P Dehner
{"title":"Variant Pseudocystic Desmoplastic Small Round Cell Tumor With Heterologous Mullerian Cysts.","authors":"Eric I Nayman, Carole Brathwaite, Felipe Pedroso, Maggie E Fader, Farres Obeidin, Louis P Dehner","doi":"10.1177/10935266241312435","DOIUrl":"https://doi.org/10.1177/10935266241312435","url":null,"abstract":"<p><p>A desmoplastic small round cell tumor (DSRCT) presented in a 13-year-old female with an acute abdomen due to torsion of a fallopian tube cyst. She was found to have an incidental 2 cm pedunculated, solid, and multicystic mass attached to the pelvic floor on laparoscopy. The neoplasm had a variably myxoid and spindle cell pattern with nests and cords of small cells, forming pseudocysts, and true cysts lined by ciliated epithelium which were PAX-8+ and ER+/PR+. The tumor had the EWSR1::WT1 fusion. Numerous peritoneal nodules less than 1 cm were noted on repeat laparoscopy 3 months later. These had similar features including the ciliated epithelial cysts. Our case illustrates yet another potential variant pattern of DSRCT with Mullerian-like ciliated epithelial cysts.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241312435"},"PeriodicalIF":1.3,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959079","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":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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
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