Giant Multilocular Prostatic Cystadenoma in a 14-Year-Old Male: A Case Report of a Pediatric Pelvic Mass

Giant multilocular prostatic cystadenoma (GMC) is an extremely rare, benign tumor seen in both adult and pediatric males. The neoplasm originates from prostatic tissue and is typically found within the rectovesical pouch, varying in both size and morphology. Microscopically, GMC contains both glandular and cystic prostatic tissue lined by cuboidal and columnar epithelium. Symptoms often arise once the pelvic mass begins to obstruct the surrounding structures and organs, although invasion into surrounding tissue is unlikely. Common symptoms include abdominal pain, urinary retention, and dysuria. The standard treatment for GMC is surgical removal of the mass with good outcomes and only 1 known case of recurrence. Here we present the case of a 14-year-old male with GMC—the youngest patient reported to date—who presented with abdominal pain, difficulty voiding, and hydroureteronephrosis.

Pseudodiverticulum of the Cervical Esophagus With Remnant of Branchial Tissues in a Newborn: A Case Report

Congenital pseudodiverticula of the esophagus are very rare. This case report describes the presentation, management and histopathology of a peudodiverticulum of the cervical esophagus in a neonate. The infant presented with respiratory distress and a right neck mass that required surgical excision. Pathology revealed a pseudodiverticulum that contained ectopic thymic, thyroid, and parathyroid tissue within the wall of the lesion. The presence of ectopic tissues of branchial origin and an aberrant right subclavian artery suggest an error in branchial development and neural crest cell migration.

Excessive Subchorionic Fibrinoid Deposition as a Component of Massive Perivillous Fibrin Deposition: A Case With Maternal Immune Thrombocytopenia

Maternal floor infarction (MFI) and massive perivillous fibrin deposition (MPFD) are overlapping placental disorders of unknown etiology, associated with adverse obstetric outcome, and a significant risk of recurrence. We describe a 31-year-old mother with asymptomatic thrombocytopenia throughout pregnancy and a positive lupus anticoagulant. She delivered a normal female neonate at term, whose weight was small for gestational age, with a placenta weighing less than the 10th percentile. Placental examination showed MPFD together with excessive subchorionic fibrinoid deposition. The placenta showed diffuse C4d deposition and an immune-mediated reaction was postulated for the pathogenesis of the placental changes. We suggest that excessive subchorionic fibrinoid deposition may be part of the morphologic spectrum of MFI/MPFD.

Cranial Fasciitis in Children: Expanding the Spectrum of USP6-Associated Clonal Transient Neoplasms

Background: Cranial fasciitis (CF) is a benign (myo)fibroblastic proliferation of children. Typical presentation consists of a rapidly growing solitary mass on the temporal or parietal cranium in the first 2 years of age. CF is characterized by a rapid growth followed by a relative slowdown and even growth arrest. The finding of somatic USP6 gene rearrangements demonstrating clonality in CF together with its clinical behavior places it in the category of diseases recently termed “transient neoplasia.” Methods: Histological, immunohistochemical, and molecular findings of 18 patients with CF were retrospectively studied. Results: The tumor typically presented as a painless rapidly enlarging mass in the temporal region. Sixty-six percent of the cases harbored USP6 gene rearrangement. Nine patients were treated with gross total resection (GTR) and 9 with subtotal tumor resection (STR). Two patients treated with GTR had recurrence. Five patients treated with STR had progression-free disease for at least 10 months after surgery and in four patients the tumor regressed spontaneously a median 16 months after surgery. Conclusions: In this largest series to date, we reported the clinicopathological, immunohistochemical, and molecular findings of 18 pediatric cases of CF with emphasis on the clinical growth pattern of these tumors.

Evaluating the Prognostic Implication of the Collins Histology Scoring System in a Pediatric Eastern Ontario Population With Eosinophilic Esophagitis

Introduction: Collins et al developed a histology scoring system (EoE HSS) to assess multiple pathologic features. The aim of this study is to identify if the EoE HSS can better detect endoscopic and symptom improvement vs the Peak Eosinophilic Count (PEC). Methods: A retrospective chart review was performed for patients during 2014–2016. All patients ≤18 years old with a diagnosis of EoE and whose records included initial and follow-up upper gastrointestinal endoscopies were included. Severity and extent of endoscopic features were scored using 8 parameters, from normal to maximum change for each location of the esophageal biopsy. Results: Forty patients with EoE were included in the study, of which 35 (87.5%) patients demonstrated symptom and 25 (62.5%) endoscopic improvement at the time of follow-up. In the proximal esophagus, the EoE HSS outperformed the change in eosinophil count of the Children’s Hospital of Eastern Ontario (CHEO) practice in predicting endoscopic improvement by 16.8% when examining the change in grade and 17.1% when examining the change in stage scores. Conclusions: At our institution, adoption of the EoE HSS in assessing biopsies of EoE patients might be warranted, compared to the traditional practice. However, a bigger sample size may give a more robust difference in all locations.

High-Grade Fetal Vascular Malperfusion Is Associated With Diffuse Chorionic Hemosiderosis

Introduction Diffuse chorionic hemosiderosis (DCH) is an abnormality of the placental membranes characterized by the deposition of iron pigment. It is usually secondary to recurrent venous bleeding in early pregnancy. In many papers, it is associated with pre-term delivery. Fetal vascular malperfusion (FVM) is an abnormality of the feto-placental circulation that may be seen at any stage of gestation, but most often in the third trimester. It may be graded as low grade (LGFVM) or high grade (HGFVM). No link has been identified in the placental literature between DCH and FVM, but we have noted the 2 co-existing in placentas submitted for analysis. This study explored a possible association of these 2 entities. Methods Laboratory records were searched for singleton cases coded as DCH based on diagnosis on H&E stain over a 6-year period. Of 4478 placentas reported, 66 cases were coded as DCH (1.5%). These were classified as showing HGFVM, LGFVM, or no FVM. Controls (n = 132) were gestational age-matched cases without DCH. Cord length, coiling, insertion, or other abnormalities were noted. Membranes were classified as normal or circumvallate. Results were analyzed using Graphpad. Results Gestation ranged between 16 and 41 weeks gestation. 14/66 (21%) cases of DCH showed HGFVM and 2/66 (3%) showed LGFVM. 16/132 (12%) controls showed HGFVM and 21/132 (15.9%) had LGFVM. Where FVM is present, high-grade FVM is significantly associated with DCH versus controls ( P < .0031 Fischer’s Test). Discussion HGFVM occurs significantly more often in placentas with DCH than in controls. Both FVM and DCH are associated with adverse perinatal outcomes, and a possible relationship between the 2 remains to be clarified.

Placental Heterogeneity in Stillbirth and Its Relations to Maternal Exogenous Characteristics

Introduction: Heterogeneous patterns of placental lesions in stillbirth signal important variations in placental histopathology that may be diagnostic in stillbirth. We explore placental heterogeneity and its associations with maternal characteristics (including HIV) using latent class analysis. Methods: Placental and maternal data and slides were assessed retrospectively for 122 confirmed stillbirths (gestational age ≥ 28 weeks) delivered at a major South African academic hospital between January 2016–July 2018. The slides were reviewed by 2 pathologists and classified using the Amsterdam Consensus Classification System. Latent class analyses were conducted on raw data. Results: We identify 5 latent placental classes in stillbirth based on similarity in patterns of observed diagnostic criteria and their associations with maternal characteristics. Three classes bear similarity to generalized patterns of placental injury identified previously. Our study shows that intrauterine infection was the commonest histopathological condition associated with stillbirth in our setting. Novel findings include 2 classes, distinguished by high placental RPH and maternal HIV, respectively, and the non-emergence of a class distinguished by VUE. Conclusion: The size and content of the latent classes and their similarity/dissimilarity to the more generalized patterns identified previously suggest potential new avenues for investigation and theory development concerning the role of the placenta in stillbirth and the impact of HIV.

Lethal Restrictive Dermopathy with ZMPSTE24 Mutation

Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.

Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency

Introduction Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. Males are severely affected. Female phenotypes vary from asymptomatic to severe, and symptoms may be triggered by high metabolic states like childbirth. Literature on OTC deficiency in pregnancy and placental pathology is limited. Methods Pathology records were searched at a single referral center from 2000–2020 and identified three placental cases from two mothers heterozygous for OTC deficiency. Placental pathology and maternal and neonatal history were reviewed in detail. Results The placenta from one symptomatic mother carrying an affected male fetus showed widespread high-grade fetal vascular malperfusion (FVM) lesions of varying age. These lesions were not seen in the two placentas from the asymptomatic mother. Discussion In cases of symptomatic maternal OTC deficiency, our findings highlight the need for placental examination. Since thrombotic events in the placenta have the potential to associate with fetal and neonatal endothelial damage, a high index of suspicion for neonatal thrombosis may be warranted.

Myelin Protein Zero Immunohistochemistry Is Not a Reliable Marker of Extrinsic Mucosal Innervation in Patients With Hirschsprung Disease

Background Innervation of aganglionic rectum in Hirschsprung disease derives from extrinsic nerves which project from cell bodies located outside the bowel wall and markers that distinguish extrinsic from intrinsic innervation are diagnostically useful. Myelin protein zero (MPZ) is a putative marker of extrinsic glial cells which could distinguish mucosal innervation in aganglionic vs ganglionic colon. Methods Sections and protein blots from ganglionic and aganglionic colon were immunolabeled with MPZ-specific antibodies. Results Immunolabeling of MPZ with a chicken polyclonal or mouse monoclonal antibody confirmed glial specificity and reliably labeled hypertrophic submucosal nerves in Hirschsprung disease. In contrast, a rabbit polyclonal antibody strongly labeled extrinsic and intrinsic nerves, including most mucosal branches. Immunoblots showed MPZ is expressed in mucosal glial cells, albeit at lower levels than in extrinsic nerves, and that the rabbit antibody is more sensitive that the other two probes. Unfortunately, none of these antibodies consistently distinguished mucosal innervation in aganglionic vs ganglionic rectum Conclusions The results suggest that (a) glial cell myelin protein zero expression is influenced more by location (mucosa vs submucosa) than the extrinsic vs intrinsic origin of the accompanied nerves and (b) myelin protein zero immunohistochemistry has limited value as a diagnostic adjunct for Hirschsprung disease.