Fetal and Pediatric Pathology

Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spinous process. Myelomeningocele of post-natal tissue is well described; however, pre-natal tissue of this defect has no known previous histologic characterization. We compared the histology of different forms of pre-natal myelomeningocele and post-natal myelomeningocele tissue obtained via prenatal intrauterine and postnatal surgical repairs...

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that exhibits etiologic genomic imprinting characterized by molecular heterogeneity and phenotypic variability. Associations with localized developmental dysplastic chondromatous lesions and cortical neuronal heterotopias have not previously been described. CASE PRESENTATION: A 33-week gestational age female had an omphalocele and intractable hypoglycemia at birth. The placenta demonstrated placental mesenchymal dysplasia...

Fibrocartilaginous dysplasia (FCD) is a variant of fibrous dysplasia that often involves the proximal femur in young adults. It has a similar appearance on imaging as other entities but has stippled calcifications within the lesion. The differential diagnosis often includes benign and malignant tumors such as fibrous dysplasia, chondroblastoma, enchondroma, and chondrosarcoma. Histology is required for diagnosis and treatment is typically surgical due to the potential for pain, pathologic fracture, and deformity...

Background: We investigated the utilization of cell free microbial DNA (cfDNA) at a Children's Hospital. Materials and Methods: cfDNA results were assessed regarding the contribution to therapeutic decisions. Results: Of 80 tests on 59 children, 1 test was unevaluable. At least one agent was identified in 45/79 (57%) tests from 34/59 (58.2%) children, 34/79 (43.0%) were negative in 31/59(52.5%) children. Of 45 positive results, 24/79 (30%) were contributory, 15/79 (19%) were diagnostic, 6/79 (7.6%) were diagnostic but diagnosis could have been made with other testing modalities, and 3/79 (3...

BACKGROUND: Granular cell tumors occur in all ages and many anatomic sites. In the craniofacial region, they typically arise in soft tissue, not bone. We present a primary intra-osseous granular cell tumor of the sphenoid and central skull base arising in a 12- year- old girl. CASE REPORT: A 12-year-old female with sickle cell disease and Jeavons syndrome presented with seizures. Imaging and partial resection revealed an expansile benign granular cell tumor (GCT) involving the sphenoid body, pterygoid process, and central skull base...

INTRODUCTION: We examined the relationship between proinflammatory cytokines that occur in the inflammatory reaction in the intestine in Hirschsprung disease (HD) and Hirschsprung-associated enterocolitis (HAEC). METHODS: Thirty cases (M:27, F:3) operated on due to HD. The cases were divided into three groups: group 1 with pre and post operative EC, group 2 with post-operative, and group 3 with pre-operative EC. The intestinal segments were evaluated by immunohistochemistry for interleukin 1 beta (IL-1ß), tumor necrosis factor-alpha (TNF-α), and interleukin 6 (IL-6)...

BACKGROUND/OBJECTIVE: Neonatal skin conditions are typically diagnosed through noninvasive methods. Few studies describe the spectrum of biopsy- evaluated neonatal skin lesions. We present our institutional experience with the conditions leading to skin biopsies in neonates. The objective is to describe the conditions for which skin biopsies are performed in neonatal patients. METHODS: There were 20 neonatal skin biopsies over a 10-year period from the hospital's delivery unit, NICU, and pediatric hospital...

Background Wilms tumor (WT) is highly curable, although anaplastic histology or relapse imparts a worse prognosis. Nephrogenic rests (NR) associated with a high risk of developing WT are abnormally retained embryonic kidney precursor cells. Methods After pseudo-time analysis using single-cell RNA sequencing (scRNA-seq) data, we generated and validated a WT differentiation-related gene (WTDRG) signature to predict overall survival (OS) in children with a poor OS. Results A differentiation trajectory from NR to WT was identified and showed that hypodifferentiated subsets of NR could differentiate into WT...

Background: We evaluated CD30 and CD56 expression in lymphoblastic lymphoma (LBL) and correlated the results with clinicopathological features and prognosis. Methods: Immunohistochemical (IHC) staining was performed on 85 formalin-fixed paraffin-embedded LBL specimens using two CD30 clones and one CD56 antibody clone. Results: Weak and diffuse expression of CD30 was expressed in 4.7% (clone Ber-H2) or 14.1% (clone EPR4102) in LBL, while CD56 was expressed in 24.7%. CD30 and CD56 expression correlated with lactate dehydrogenase levels...

INTRODUCTION: Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. METHODS: We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing. RESULTS: Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests. DISCUSSION: Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome...

INTRODUCTION: Minimally invasive tissue sampling of the brain in newborns using the Bard Monopty needle helps to diagnose various neurological conditions by obtaining relevant brain cores. We designed a modified procedure to provide maximum diagnostic utility in brain tissue biopsies. METHOD: Twenty newborns underwent postmortem minimally invasive tissue sampling of the brain through the anterior fontanelle and posterior approach, using the engraved lines on the needle labeled from mark 0 to 13...

OBJECTIVE: Afamin is a protein that increases in gestational diabetes but its concentration in neonates hasn't been investigated. Our objective is to compare cord blood afamin levels in neonates born to mothers with and without diabetes, and to explore its relationship with maternal and neonatal variables. METHODS: In this case control study, umbilical cord blood was collected for afamin measurement in pregestational/gestational diabetic pregnancies ( n  = 40) and healthy pregnancies ( n  = 45) after delivery...

Introduction : Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis...

Background: Accurate identification of fetal growth restriction in fetal autopsy is critical for assessing causes of death. We examined the impact of using a chart derived from ultrasound measurements of healthy fetuses (World Health Organization fetal growth chart) versus a chart commonly used by pathologists (Archie et al.) derived from fetal autopsy-based populations in diagnosing small-for-gestational-age (SGA) birth in perinatal deaths. Study Design: We examined perinatal deaths that underwent autopsy at BC Women's Hospital, 2015-2021...

Background : Intestinal parasitic infection (IPI) poses a serious public health threat across the globe, particularly in children in low- and middle-income countries like Ethiopia. This study was to provide pooled estimates for the individually available data on IPI and its predictors among children under five in Ethiopia. Methods : Cochrane's Q , I 2 , sensitivity analysis, funnel plot, Begg's, and Egger's regression tests were used to check heterogeneity and publication bias. A random-effects model was used to calculate the pooled burden of IPI among children under five...

No abstract text is available yet for this article.

Background : Midline developmental neck lesions primarily consist of thyroglossal duct remnants. Their recurrence is uncommon following thorough resection, which includes hyoid removal (the Sistrunk procedure). Case report : A 3-year-old girl presented with mucoid secretion drainage and swelling in the anterior mid-neck region, clinically resembling a thyroglossal duct remnant. Following an initial Sistrunk procedure, the lesion recurred, prompting a subsequent resection. Histological analysis revealed a mucocele alongside acinar and mucous ectopic salivary glands...

No abstract text is available yet for this article.

Background: The available literature on intrauterine transfusion focuses largely on its application in fetal alloimmunization rather than hereditary red cell disorders, with limited illustration of its associated histopathologic findings. Case report: We present the histologic findings in a placenta associated with preterm delivery of an infant with autosomal SPTA1 mutation following multiple intrauterine transfusions, including appropriate villous maturation, subchorionic organizing hematomas, hemosiderin-laden macrophages, and dysmorphic fetal erythrocytes within villous capillaries...

INTRODUCTION: In the lack of updated Tunisian epidemiological data, we sought to describe the epidemiology of Group B Streptococcus (GBS) in pregnant women and newborns. MATERIALS AND METHODS: A retrospective analysis of GBS neonatal invasive infections and a cross-sectional study evaluating the prevalence of maternal GBS colonization were conducted. GBS isolates were tested for antimicrobial susceptibility, serotyped, and assessed for the appurtenance to the hypervirulent ST17 clone...