{"title":"Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease: a potentially misleading observation.","authors":"Raj P Kapur","doi":"10.2350/13-10-1387-OA.1","DOIUrl":"https://doi.org/10.2350/13-10-1387-OA.1","url":null,"abstract":"<p><p>Absent calretinin-immunoreactive (CRir) mucosal innervation in aganglionic rectal biopsies is considered a useful diagnostic finding for Hirschsprung disease. Analysis of a series of rectosigmoid resections from patients with short-segment (>2-cm aganglionic, n = 9) and very short-segment (≤2-cm aganglionic, n = 9) Hirschsprung disease demonstrates that CRir mucosal nerves extend into the proximal 1-2 cm of aganglionic bowel, where their presence in distal rectal biopsies could complicate diagnosis of very short-segment disease. Indeed, retrospective analysis of preoperative, aganglionic, distal rectal biopsies from 4 of 9 patients with very short-segment Hirschsprung disease revealed CRir mucosal innervation. Accurate diagnosis was possible based on generous histopathological submucosal sampling to exclude ganglion cells and the presence of abundant large-caliber submucosal nerves (more than 4 nerves >30 µm thick/×200 field or more than 2 nerves >40 µm thick/×200 field). Absent CRir mucosal innervation supports the diagnosis of Hirschsprung disease, but the presence of CRir mucosal nerves does not exclude aganglionosis, especially in distal rectal biopsies from patients with very short-segment Hirschsprung disease.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"28-35"},"PeriodicalIF":1.9,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/13-10-1387-OA.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40274930","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}
Paul S Weisman, Papreddy V Kashireddy, Linda M Ernst
{"title":"Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester.","authors":"Paul S Weisman, Papreddy V Kashireddy, Linda M Ernst","doi":"10.2350/13-02-1305-OA.1","DOIUrl":"https://doi.org/10.2350/13-02-1305-OA.1","url":null,"abstract":"<p><p>As a group, lethal genetic skeletal disorders (GSDs) usually result in death within the perinatal period. Because lethal GSDs are often ultrasonographically detectible by early midtrimester, dilation and evacuation (D&E) is the method of choice for elective termination of pregnancy in many institutions. However, because the diagnosis of the lethal GSDs relies heavily upon radiologic examination of fetal remains, reaching an accurate diagnosis in this setting can be challenging. We report an autopsy case of a fetus delivered by D&E at 15 4/7 weeks gestation with radiologic, histologic, and genetic findings compatible with achondrogenesis type 2 and discuss an evidence-based differential diagnostic approach to lethal GSDs terminated by early midtrimester D&E.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10-20"},"PeriodicalIF":1.9,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/13-02-1305-OA.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40253092","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}
Emily E Meserve, Leslie E Lehmann, Antonio R Perez-Atayde, James L Labelle
{"title":"Cyclophosphamide-associated cardiotoxicity in a child after stem cell transplantation for β-thalassemia major: case report and review of the literature.","authors":"Emily E Meserve, Leslie E Lehmann, Antonio R Perez-Atayde, James L Labelle","doi":"10.2350/13-04-1324-CR.1","DOIUrl":"https://doi.org/10.2350/13-04-1324-CR.1","url":null,"abstract":"<p><p>We present a clinicopathologic study of the youngest reported child with lethal cyclophosphamide-induced cardiotoxicity after hematopoietic stem cell transplantation for β-thalassemia major and the 1st pediatric report of the use of extracorporeal membrane oxygenation as a therapeutic modality to bridge the patient to myocardial recovery. Despite improvement in myocardial function while on extracorporeal membrane oxygenation, at autopsy 11 days after the onset of cardiac dysfunction, epicardial hemorrhage and extensive myocardial hemorrhagic infarction were revealed. Histopathologic and ultrastructural examination of the myocardium revealed extensive coagulative necrosis of cardiomyocytes, endothelial damage, fibrin thrombi, and subendothelial and interstitial fibrin. We review the literature on cyclophosphamide-induced cardiotoxicity and describe its clinicopathologic characteristics. Our findings point to endothelial damage leading to thrombotic microangiopathy and ischemic tissue injury as the most likely pathogenesis.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"50-4"},"PeriodicalIF":1.9,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/13-04-1324-CR.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40253322","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}
Jinglan Liu, Robert T Ownbey, Steven F Boc, Donna M Pezanowski, Dilipkumar M Patel, Soorena Sadri, Gregory A Vincent, Jean-Pierre de Chadarévian
{"title":"Pseudotetraploid clone with structural chromosomal rearrangements in a chondromyxoid fibroma: a case report.","authors":"Jinglan Liu, Robert T Ownbey, Steven F Boc, Donna M Pezanowski, Dilipkumar M Patel, Soorena Sadri, Gregory A Vincent, Jean-Pierre de Chadarévian","doi":"10.2350/12-01-1145-CR.1","DOIUrl":"https://doi.org/10.2350/12-01-1145-CR.1","url":null,"abstract":"<p><p>Chondromyxoid fibroma is a rare benign tumor accounting for 1-2% of primary bone tumors. Most of the patients are young males in the 2nd and 3rd decades of life. Metaphyses of long bones are predominantly affected. The histology of this tumor is well established, but its genetic mechanism remains poorly characterized. To our knowledge, only 22 abnormal cytogenetic analyses have been reported, and all contained diploidy or near-diploidy karyograms as their primary event, and inv(6)(p25)(q13) and rearrangements involving regions 6p23-25, 6q12-15, and 6q23-27 constituted a recurrent observation. In this report, a pseudotetraploidy tumor clone with multiple numerical and structural aberrations involving 6p23 as well as other chromosomal loci was identified in a chondromyxoid fibroma from the metaphysis of the left fibula of an 18-year-old male, which has not been reported. The finding may relate to the atypical-looking large cells often seen in this benign tumor.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"201-5"},"PeriodicalIF":1.9,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/12-01-1145-CR.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205781","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}
Audrey Rosefort, Anne-Gael Cordier, Sahar Kaddioui, Brigitte Beaumont, Rebecca Baergen, Alexandra Benachi, Jelena Martinovic
{"title":"Co-occurrence of multifocal chorioangiomatosis and mesenchymal dysplasia in preeclampsia.","authors":"Audrey Rosefort, Anne-Gael Cordier, Sahar Kaddioui, Brigitte Beaumont, Rebecca Baergen, Alexandra Benachi, Jelena Martinovic","doi":"10.2350/12-02-1153-CR.1","DOIUrl":"https://doi.org/10.2350/12-02-1153-CR.1","url":null,"abstract":"<p><p>Chorioangioma is the most common benign vascular placental tumor. It is often small and has no clinical significance. Large chorioangiomata are rarer and can lead to fetal or maternal complications. Chorioangiomatosis is even rarer and is defined as a focal or multifocal proliferation of placental capillaries permeating villous tissue. Placental mesenchymal dysplasia (PMD) is characterized by the overgrowth of placental mesenchymal tissue and can be associated with fetal or obstetrical complications. We report a case associated with preeclampsia and intrauterine growth restriction, in which both chorioangiomatosis and PMD were present.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"206-9"},"PeriodicalIF":1.9,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/12-02-1153-CR.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40208360","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}
{"title":"Torsion of the gonad in the pediatric population: spectrum of histologic findings with focus on aspects specific to neonates and infants.","authors":"Wadad S Mneimneh, Tipu Nazeer, Timothy A Jennings","doi":"10.2350/12-07-1221-OA.1","DOIUrl":"https://doi.org/10.2350/12-07-1221-OA.1","url":null,"abstract":"<p><p>Histopathologic findings of gonadal torsion in neonates and infants (GTNI) are poorly defined in the literature. We describe herein the histopathologic spectrum of GT with emphasis on the pediatric population and on features specific for NI (≤1 year of age). Twenty-four cases of GTNI (6 females/18 males), 33 cases of GT in an older pediatric population (OPP) (19 females/14 males), and 43 cases of GT in adults (35 females/8 males) were found in our pathology files between 2003 and 2011. Our findings disclosed 2 categories of GT: 1) the group of NI, and 2) that of OPP and adults who share a similar presentation as acute hemorrhagic necrosis of the gonad. Although findings in NI were rather uniform, a few differences were demonstrated between the 2 genders. All GTNI revealed calcifications, fibrosis, siderophages, and extensive necrosis. However, prominent necrotizing palisaded granulomatas were seen in most (4 of 6) cases of ovarian torsion but not in the testicular counterpart. Furthermore, complete gonad regression was encountered exclusively in neonatal testicular torsion cases. In conclusion, 1) pathologic findings in GT are distinctly different between NI and OPP, the latter being more comparable to adults, presenting with acute hemorrhagic necrosis; 2) the distinctive findings in GTNI of both genders include calcifications, siderophages, and fibrosis, in addition to background necrosis; 3) of particular note, complete gonadal regression is seen only in the testis in GTNI; and 4) necrotizing palisaded granulomatas are unique to the ovarian subgroup and are often extensive, obscuring the nature of the process.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"74-9"},"PeriodicalIF":1.9,"publicationDate":"2013-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/12-07-1221-OA.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40208719","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}
Gabriela Gheorghe, Oana Radu, Samuel Milanovich, Ronald L Hamilton, Ronald Jaffe, James F Southern, John A Ozolek
{"title":"Pathology of central nervous system posttransplant lymphoproliferative disorders: lessons from pediatric autopsies.","authors":"Gabriela Gheorghe, Oana Radu, Samuel Milanovich, Ronald L Hamilton, Ronald Jaffe, James F Southern, John A Ozolek","doi":"10.2350/12-01-1148-OA.1","DOIUrl":"https://doi.org/10.2350/12-01-1148-OA.1","url":null,"abstract":"<p><p>Posttransplant lymphoproliferative disorders (PTLD) involving the central nervous system (CNS) in children are uncommon and can prove diagnostically challenging. The clinical and imaging characteristics of CNS PTLD can overlap with those of infection, hemorrhage, and primary CNS tumors. Some cases of CNS PTLD remain clinically unsuspected and are diagnosed postmortem. We report 6 instances of CNS PTLD in children, 2 of which were limited to the CNS and were unsuspected before autopsy. In our autopsy series, PTLD was found outside the CNS in 4 out of 6 cases. Since CNS PTLD has a poor prognosis and the presentation can be subtle, unsuspected, and high grade, it is important to maintain a high index of suspicion and to perform imaging and brain biopsy whenever clinically appropriate. In the presence of leptomeningeal involvement, the diagnosis could be made by cerebral spinal fluid examination.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"67-73"},"PeriodicalIF":1.9,"publicationDate":"2013-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/12-01-1148-OA.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40209676","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}
Jefferson Terry, Mondal Tapas, Malgorzata J M Nowaczyk
{"title":"Prenatal and pathologic features of aorto-left ventricular tunnel causing fetal hydrops and intrauterine demise.","authors":"Jefferson Terry, Mondal Tapas, Malgorzata J M Nowaczyk","doi":"10.2350/12-10-1264-CR.1","DOIUrl":"https://doi.org/10.2350/12-10-1264-CR.1","url":null,"abstract":"<p><p>ABSTRACT Aorto-left ventricular tunnel (ALVT) is a rare congenital heart anomaly of unclear pathogenesis causing left ventricular volume overload. Most descriptions are from surgical corrections in the neonatal and infantile period, and little is known about ALVT in utero. Here we describe a case of ALVT ending in intrauterine demise with fetal hydrops at 30 weeks gestational age. Prior echocardiography showed features suggesting the presence of an ALVT, and an ALVT circumventing the left coronary leaflet of the aortic valve was confirmed at autopsy. Marked cardiomegaly and dilatation were present along with diffuse myocardial infarction. Other potential causes of fetal hydrops were not found, and genetic analysis, including analysis for RAS pathway mutations, did not reveal any detectable abnormalities. The presentation as intrauterine demise suggests that the architecture of this ALVT compromises cardiac function to a greater degree than the more typical defects discovered in the neonatal period.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"97-101"},"PeriodicalIF":1.9,"publicationDate":"2013-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/12-10-1264-CR.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40209064","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}
Naomi Arakaki, Guillermo Gallo, Rodolfo Majluf, Blanca Diez, Eugenia Arias, Miguel A Riudavets, Gustavo Sevlever
{"title":"Extranodal rosai-dorfman disease presenting as a solitary mass with human herpesvirus 6 detection in a pediatric patient.","authors":"Naomi Arakaki, Guillermo Gallo, Rodolfo Majluf, Blanca Diez, Eugenia Arias, Miguel A Riudavets, Gustavo Sevlever","doi":"10.2350/11-11-1110-CR.1","DOIUrl":"https://doi.org/10.2350/11-11-1110-CR.1","url":null,"abstract":"<p><p>In Rosai-Dorfman disease (RDD), exclusive extranodal involvement with lesions limited to the kidneys is very uncommon and has been described only in adult patients. Occasionally, human herpesvirus 6 (HHV-6) has also been detected in RDD tissue samples. We present the case of a 7-year-old boy referred to our center presenting a single solid mass in the right kidney measuring 3.4 cm, detected both on contrast computed tomography and magnetic resonance imaging. Surgical excision was successfully completed, and the pathology report informed characteristic histopathology and immmunohistochemistry features of RDD. Human herpesvirus 6 was detected and amplified by polymerase chain reaction, as well as by immunohistochemistry. We discuss imaging and histology-based differential diagnoses in the pediatric age group. Although RDD is a rare histiocytic disorder of unknown etiology and pathogenesis, the presence of HHV-6 observed in this case supports the possibility of an abnormal immunologic response linked to viral presence.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"324-8"},"PeriodicalIF":1.9,"publicationDate":"2012-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/11-11-1110-CR.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40149024","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}
Riley E Alexander, Jennifer B Kum, Muhammad Idrees
{"title":"Bladder diverticulum: clinicopathologic spectrum in pediatric patients.","authors":"Riley E Alexander, Jennifer B Kum, Muhammad Idrees","doi":"10.2350/12-02-1154-OA.1","DOIUrl":"https://doi.org/10.2350/12-02-1154-OA.1","url":null,"abstract":"<p><p>Urinary bladder diverticula are a relatively rare finding in both the adult and pediatric population. Their presence in the adult population has long been associated with the development of urothelial carcinoma within the lesion. Our goal is to analyze a relatively large pediatric patient population with urinary bladder diverticula to expand the body of knowledge on the associated clinical symptomatology, congenital syndromes associated with the entity, and treatment methods and to further investigate if there is any reason to suspect malignant transformation within the pediatric population. A search for pediatric patients (0-19 years of age) from 1990 to 2011 revealed 47 patients with 60 diverticula within the specified age range. Clinical records and histologic slides for all cases were pulled for review, and statistical analysis was performed on the results. The most common findings were vesicoureteral reflux (68%), recurrent urinary tract infection (55%), and hydronephrosis (40%). Fourteen of 47 (30%) patients had an associated congenital syndrome/malformation. Diverticular size range was 0.5-10 cm with a mean of 2.56 cm. No patient was found to have overt malignancy or dysplastic changes within the diverticula or bladder at the time of pathologic evaluation. High association with recognizable clinical symptoms and additional urinary tract abnormalities leads to early identification and treatment. A sizable percentage of those found to have bladder diverticula within the pediatric population will have a congenital syndrome. No association with malignancy is seen within pediatric bladder diverticula; it is an extremely unlikely event in these young patients.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"281-5"},"PeriodicalIF":1.9,"publicationDate":"2012-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2350/12-02-1154-OA.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40162438","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}