{"title":"Evolving Concepts in Etiology of Biliary Atresia: Insights and Perspectives from India.","authors":"Anil Kumar Ram, Akshit Vats, Alka Bhatia, Yashwant Kumar","doi":"10.1080/15513815.2025.2477704","DOIUrl":"https://doi.org/10.1080/15513815.2025.2477704","url":null,"abstract":"<p><p><b>Introduction</b>: Biliary atresia (BA) is a potentially fatal newborn cholestatic disease. It is a rapidly advancing fibro-obliterative cholangiopathy that leads to liver failure and death if not treated early. The well-known multihit hypothesis proposes that viral or chemical disruption to the biliary epithelium triggers an immune-mediated inflammatory response, resulting in fibrosis and blockage of the intra and extrahepatic biliary systems. <b>Methods:</b> In recent years, several papers have noticed an upsurge in many aspects of BA, particularly its etiopathogenesis, which has opened a vista of various probable mechanisms currently being examined. This review brings them together with an emphasis on reflecting current scientific views for those interested in this illness. <b>Conclusions:</b> Among the different etiological factors proposed for BA, viruses and immune-mediated injury are the strongest contenders as contributors to the disease onset and pathogenesis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-23"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781565","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}
{"title":"Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature.","authors":"C Marchetto, G Bracalente, P Midrio","doi":"10.1080/15513815.2025.2476459","DOIUrl":"https://doi.org/10.1080/15513815.2025.2476459","url":null,"abstract":"<p><p><b>Introduction:</b> Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case. <b>Methods:</b> A systematic and manual search of the literature using the keywords \"prenatal diagnosis, meconium peritonitis, Hirschsprung disease\" was conducted on PUBMED, Scopus, and SCIE (Web of Science). <b>Results:</b> Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported. <b>Conclusion:</b> The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-8"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671734","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}
Tanvi Jha, Prajwala Gupta, Varun Garg, Vivek Dewan
{"title":"The Great Mimicker: Langerhans Cell Histiocytosis Mimicking Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy.","authors":"Tanvi Jha, Prajwala Gupta, Varun Garg, Vivek Dewan","doi":"10.1080/15513815.2025.2476463","DOIUrl":"https://doi.org/10.1080/15513815.2025.2476463","url":null,"abstract":"<p><p>Langerhans Cell Histiocytosis (LCH) is a rare proliferative disorder of the Langerhans cells, often affecting multiple organ systems and mimicking conditions like autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). This case report details a 3-year-old male, who presented with submandibular swellings, nail abnormalities, seborrheic dermatitis and systemic involvement, initially diagnosed as APECED syndrome clinically. Fine-needle aspiration cytology (FNAC) and immunohistochemistry confirmed LCH. The patient was treated with vinblastine and prednisolone and showed marked improvement. This case emphasizes the importance of early, accurate diagnosis on FNAC to differentiate LCH from other mimicking conditions, enabling timely treatment and improved prognosis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-8"},"PeriodicalIF":0.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663981","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}
{"title":"Testicular Torsion in a 14-Year-Old with Sertoli Cell Granular Cell Change and Sertoli Nodules.","authors":"Randall Craver","doi":"10.1080/15513815.2025.2458665","DOIUrl":"10.1080/15513815.2025.2458665","url":null,"abstract":"<p><p><b>Introduction:</b> Sertoli eosinophilic granular change and Sertoli cell nodules are incidental findings. This details focal Sertoli eosinophilic granular and Sertoli cell only changes coincident with Sertoli cell nodules in a pubertal testis with acute torsion and bell clapper deformity. <b>Case Report:</b> A 14-year-old with bell clapper deformity underwent orchiectomy for torsion. There was acute interstitial hemorrhage. Seminiferous tubules contained only Sertoli cells in ∼10%, 2-5% of tubules demonstrated eosinophilic granular cell changes. There were several Sertoli cell nodules. <b>Discussion:</b> Sertoli cell nodules and eosinophilic granular change have not been described together. The focality of Sertoli cell only changes is unusual. The combination of focal Sertoli cell only and eosinophilic granular cell changes with Sertoli nodules in a testis with bell clapper abnormality may reflect an abnormal testicular environment, either physical and/or molecularly. This combination raises concerns for future fertility if seminiferous tubular abnormalities exist and progress in the remaining testis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"166-171"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060989","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}
P Sivathangam, D Srinivasamurthy, Vani Krishnamurthy
{"title":"Efficacy of Frozen Section Technique as a Rapid Diagnostic Tool in the Diagnosis of Funisitis in Premature Deliveries.","authors":"P Sivathangam, D Srinivasamurthy, Vani Krishnamurthy","doi":"10.1080/15513815.2025.2457617","DOIUrl":"10.1080/15513815.2025.2457617","url":null,"abstract":"<p><strong>Introduction: </strong>Presence of leucocytic infiltration in perivascular area or in Wharton jelly indicates funisitis. While conventional histopathological examination is the gold standard, its time delay hampers timely intervention. The frozen section technique offers a rapid alternative, enabling clinicians to promptly manage preterm early onset sepsis.</p><p><strong>Methods: </strong>This is a prospective study of 18 months. 125 preterms analyzed. Frozen sections and conventional sections of umbilical cord prepared and examined for inflammation by two researchers. Diagnostic accuracy of frozen sections versus conventional sections evaluated for sensitivity and specificity in detecting funisitis.</p><p><strong>Results: </strong>The frozen section of the umbilical cord was 85.5% sensitive and 86.7% specific in diagnosing funisitis. The inter-rater agreement for diagnosing funisitis was 72.2%. Funisitis on frozen section was 82.2% sensitive and 26.3% specific in diagnosing neonatal sepsis.</p><p><strong>Conclusion: </strong>Frozen section examination of umbilical cord has good diagnostic ability in detecting funisitis. The inter-rater agreement is substantial.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"106-113"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143371173","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}
{"title":"Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.","authors":"Jingxin Yang, Chao Liu, Qian Geng, Liyuan Chen, Lei Zhang, Weiqing Wu","doi":"10.1080/15513815.2025.2466057","DOIUrl":"10.1080/15513815.2025.2466057","url":null,"abstract":"<p><p><b>Introduction:</b> Mucolipidosis II alpha/beta (ML II) is an autosomal recessive disorder with craniofacial dysmorphism and bone deformities. The variants in <i>GNPTAB</i> are associated with ML II. <b>Materials and Methods:</b> A female pediatric patient presented with bone deformities, mental and motor developmental abnormalities and craniofacial dysmorphism. We performed clinical whole-exome sequencing (WES) and verified the variants <i>via</i> qPCR, gap-PCR and Sanger sequencing. <b>Results:</b> Clinical WES identified a point variant c.1090C > T (p.R364*) and a copy number variation (CNV) in <i>GNPTAB</i>. Compared with normal control, <i>GNPTAB</i> expression was reduced in blood of the proband. Using Gap-PCR and Sanger sequencing, we identified the break point of CNV (NC_000012.11:g.102136912_102142973del), and successfully performed prenatal diagnosis for the proband's mother. <b>Conclusion:</b> To our knowledge, this is the first report of this novel CNV associated with ML II. Our findings expand the genotypes related to ML II and contribute to the gene diagnosis of ML II.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"157-165"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434309","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}
Aileen Azari-Yam, Mohammad Vasei, Moeinadin Safavi
{"title":"Multinucleated Giants: Unveiling Pediatric Renal Epithelioid PEComa.","authors":"Aileen Azari-Yam, Mohammad Vasei, Moeinadin Safavi","doi":"10.1080/15513815.2025.2458677","DOIUrl":"10.1080/15513815.2025.2458677","url":null,"abstract":"<p><p>Perivascular epithelioid cell tumors (PEComas) of the kidney are rare mesenchymal tumors that rarely occur in children. Individuals with tuberous sclerosis (TS) are at increased risk for these tumors. While classic PEComas are benign, the epithelioid variant could have malignant potential and metastasis capacity. We report a case of right kidney epithelioid PEComa with uncertain malignant potential in a 3-year-old girl who had no personal or family history of tuberous sclerosis. The tumor was found through ultrasound imaging. Sections from the radical nephrectomy specimen showed epithelioid and spindle cells with abundant granular eosinophilic or clear cytoplasm, mildly pleomorphic vesicular nuclei and distinctive perivascular arrangement. Abundant multinucleated giant cells were seen. No further therapy was suggested by the oncologist. The patient is doing well ten months post-surgery. We reviewed the literature and analyzed the features of pediatric renal PEComas reported so far.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"138-147"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473182","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}
{"title":"Early- and Late-Onset Intrahepatic Cholestasis of Pregnancy: A Comparison of Maternal and Neonatal Outcomes.","authors":"Meryem Hocaoglu, Ozgul Bulut, Irem Unal, Gokcem Inanc Karaman, Dilan Unsal Kaya, Abdulkadir Turgut","doi":"10.1080/15513815.2025.2463983","DOIUrl":"10.1080/15513815.2025.2463983","url":null,"abstract":"<p><strong>Introduction: </strong>We investigated the maternal and neonatal outcomes of early- and late-onset intrahepatic cholestasis of pregnancy (ICP).</p><p><strong>Methods: </strong>A total of 198 pregnant women were recruited into this retrospective cohort study. Women with ICP (<i>n</i> = 84) were classified into two groups: (1) Early-onset ICP (<i>n</i> = 36): pregnancy duration at diagnosis <34 weeks; (2) Late-onset ICP (<i>n</i> = 48): pregnancy duration at diagnosis ≥34 weeks. Maternal and neonatal outcomes were compared among the three groups.</p><p><strong>Results: </strong>The assisted reproductive technology (ART) pregnancy rate and serum bile acid (SBA) levels were significantly higher in the early-onset ICP group with adverse perinatal outcome (APO) than those without. Notably, the birth weight was significantly lower among neonates in the early-onset group of ICP than among neonates in the late-onset ICP and control groups (<i>p</i> < 0.001). Birth weight (OR = 0.998, 95% CI: 0.997-0.999, <i>p</i> = 0.041)was associated with early-onset ICP, according to the multivariate analysis. Receiver-operating characteristic (ROC) analysis revealed that a cutoff value of 36.8 weeks for gestational age at diagnosis and 9.6 mmol/L for SBA can distinguish between ICP patients with APO and those without.</p><p><strong>Discussion: </strong>Early-onset ICP is associated with low birth weight. ART pregnancies and women with higher SBA concentrations needed to be closely monitor for possible adverse perinatal outcomes in early-onset ICP.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"114-130"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392373","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}
Kayla Hoerschgen, Morgan Stottlemyre, Celeste Brancato, Louis P Dehner
{"title":"Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.","authors":"Kayla Hoerschgen, Morgan Stottlemyre, Celeste Brancato, Louis P Dehner","doi":"10.1080/15513815.2025.2449948","DOIUrl":"10.1080/15513815.2025.2449948","url":null,"abstract":"<p><p><b>Background:</b> <i>Pseudomonas aeruginosa (PA)</i>, a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. <b>Case Presentation:</b> We present a case of a \"healthy\" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated. Blood cultures grew <i>Pseudomonas aeruginosa</i> shortly after death. The postmortem examination revealed Pseudomonal vasculopathy of the central nervous system and genetic testing detected an autosomal recessive pathogenic variant in IRAK-4. <b>Discussion:</b> Community-acquired Pseudomonal sepsis in previously healthy children is rare. Studies have found that up to 20% of children presenting with sepsis have an underlying immune defect. Deficiency of IRAK-4 predisposes patients to recurrent, life-threatening, microbial infections, notably Streptococcus pneumoniae, Staphylococcus aureus, and PA. <b>Conclusion:</b> A primary immunodeficiency should be suspected in a \"healthy\" child presenting with sepsis by an unexpected bacterium as the clinical consequences may be severe and the findings may have reproductive implications for the parents.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"131-137"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025741","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}
Mai He, Kayla Hoerschgen, Amy E Armstrong, Lili Zhang, Patrick Dillon, Frances White, Louis P Dehner
{"title":"Yolk Sac Tumor of the Liver: An Important Differential for Liver Mass with Elevated Serum Alpha-Fetoprotein in the Pediatric Population.","authors":"Mai He, Kayla Hoerschgen, Amy E Armstrong, Lili Zhang, Patrick Dillon, Frances White, Louis P Dehner","doi":"10.1080/15513815.2025.2457616","DOIUrl":"10.1080/15513815.2025.2457616","url":null,"abstract":"<p><p><b>Introduction:</b> Yolk sac tumor (YST) is a malignant germ cell tumor with 10-15% arising in extragonadal sites. <b>Methods:</b> A search through our institution's database from January 01, 1990, to December 31, 2020, for \"yolk sac tumor\" or \"endodermal sinus tumor\" and \"liver\". <b>Results:</b> Our search yielded three cases. A 20-month-old girl with a liver mass and serum alpha-fetoprotein (AFP) level of 46558.0 ng/mL. The neoplasm was papillary with Schiller-Duval bodies. A 2-year-old boy with hepatic masses and adrenal mass with a serum AFP of 106,604.5 ng/mL. Numerous Schiller-Duval bodies were present. A 7-month-old girl with a liver mass, lung nodules, and retroperitoneal masses. Serum AFP was in the 800s ng/mL. Hepatoid and microcystic YST were mixed with hepatoblastoma (HBL). All three cases were positive for CAM5.2, SALL4, Glypican-3, beta-catenin, and AFP. <b>Conclusion:</b> Hepatic yolk sac tumor should be considered in the differential of a liver mass in pediatric patients with elevated AFP.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"98-105"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191148","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}