Fetal and Pediatric Pathology最新文献

Background: Fetus in fetu (FIF) is a rare congenital anomaly in which a malformed parasitic twin is enclosed within its host, usually in the retroperitoneum. Oral presentation is extremely rare, with few cases described. Differentiation from teratomas, particularly epignathus, is challenging but crucial for prognosis and management.

Case presentation: An 18-year-old gravida 3, para 2 was referred at 26 weeks for suspected epignathus. Ultrasound showed a large oropharyngeal mass, polyhydramnios, omphalocele, diaphragmatic hernia, and cardiac anomalies. Fetal demise occurred at 32 weeks. Postmortem examination revealed a second head-like mass with skin, cranial bones, facial features, and cerebral tissue. Histopathology confirmed highly organized fetiform mass consistent with FIF despite absence of vertebral axis.

Conclusion: This is a rare case of oral FIF entirely comprising a second head and associated with major host anomalies. Awareness of this entity is essential for accurate diagnosis and perinatal planning when airway compromise is anticipated.

Objectives: Early diagnosis of neonatal sepsis may be helpful in decreasing neonatal mortality. Neutrophil CD64 (nCD64) is a leukocyte surface antigen whose expression increases about an hour after bacterial invasion. We aimed to study the expression and diagnostic utility of nCD64 in the early detection of neonatal sepsis compared to existing sepsis indicators.

Materials and methods: This prospective observational study was conducted on 140 neonates in a tertiary healthcare center. Those having clinical sepsis were taken as cases and healthy neonates were enrolled as controls. In cases, blood samples were collected for blood culture, sepsis screen and nCD64 expression. Neonates were divided into three groups: Group 1 (n = 3) with both blood culture and sepsis screen positive, Group 2 (n = 40) with blood culture negative but sepsis screen positive and Group 3 (n = 27) with both blood culture and sepsis screen negative. Group 4 (n = 70) was the control.

Statistical analysis: The data was entered in an MS EXCEL spreadsheet and was analyzed using SPSS version 21.0. Paired T test/Wilcoxon test was used for comparing nCD64. Quantitative and qualitative variables were also compared. The McNemar test was used to compare sensitivity and specificity.

Results: nCD64 expression was highest in Group 1 (23.2%), followed by Groups 2 and 3. It showed high sensitivity (78.57%) and specificity (100%) in sepsis cases. Significant positive correlation was also noted between nCD64 and other sepsis biomarkers.

Conclusion: CD64 expression may, thus, be considered as a rapid and reliable marker for early diagnosis of neonatal sepsis.

Introduction: Preterm birth is a leading international health issue with morbidity and mortality risks. Premature infants frequently present with congenital anomalies or perinatal asphyxia, both of which contribute to prolonged hospitalization and greater need for respiratory support. This research investigates the effects of birth defects or asphyxia among premature infants on survival and recovery. Methods: This retrospective cohort study was carried out in an NICU in Mecca, Saudi Arabia. We examined 120 medical records of premature infants diagnosed with birth defects or birth asphyxia to determine outcomes like mortality, morbidity, ventilation days, and the unit in which they stayed. Results: Infants with birth asphyxia had a lower mortality rate (13.2%) as opposed to birth defects (37.8%). The rate of improvement of infants with asphyxia (81.6%) was higher than that of infants with birth defects (58.5%). Infants who had birth defects needed more ventilation hospitalization compared to infants with birth asphyxia. The rates of blood count and ventilation failure were also higher in the birth defects group. Discussion: Birth defects exacerbate levels of mortality, length of hospital stay, and complications in preterm infants as opposed to asphyxiation during birth. Conclusion: Birth defects and birth asphyxia play an important role in the outcome of premature babies. Improved survival and fewer complications are linked to early recognition and individualized care.

Background: Melanocytes and Schwann cells share a neural crest origin. Giant congenital melanocytic nevi (CMN) are linked to neurocutaneous melanocytosis (NCM), melanoma risk, and CNS anomalies. We report a case of giant CMN with a holocord intradural nerve sheath tumor.

Case presentation: A 19-month-old male with CMN presented for spinal mass treatment. History included recurrent pulmonary infections, severe neurological impairment, and developmental delay. Spinal MRI revealed an intradural-intramedullary mass extending from C5 to L1 (up to 2 cm thick), compressing nerve roots. Partial resection was performed, though the thoracic portion adhered irreversibly to the cord and roots. Pathology identified a hybrid nerve sheath tumor.

Conclusion: To our knowledge, this is the first reported case of a spinal nerve sheat tumor associated with CMN in a pediatric patient. The surgery and pathology of the case demonstrated distinctive features. This unique case and its management are shared with the literature.

Introduction: Hereditary spherocytosis (HS) is a congenital hemolytic anemia, often under-recognized in neonates. Co-inheritance with other genetic disorders like Gilbert syndrome (GS) and beta-thalassemia trait (BTT) can complicate the diagnosis. Case Report: We report a neonate presenting with significant unconjugated hyperbilirubinemia and anemia. Genetic testing revealed a triple diagnosis- HS due to a heterozygous deletion in the SPTB gene, BTT with a splice-site variant in the HBB gene, and heterozygosity for UGT1A1 promoter polymorphism associated with GS. The father, previously diagnosed with GS, was also found to have HS, explaining his long-standing splenomegaly and history of cholelithiasis. Conclusion: This rare triple genetic diagnosis highlights the need for comprehensive evaluation of neonatal jaundice and anemia, considering combined hemolytic, enzymatic and hemoglobinopathy causes. Detailed clinical evaluation of family members is crucial to avoid missed diagnoses.

Introduction: Congenital diaphragmatic hernia (CDH) lungs are characterized by pulmonary hypertension and lung hypoplasia. We have used single cell RNA sequencing (scRNA-seq) to show that mesenchyme is perturbed in CDH, leading to disrupted epithelial-mesenchymal transition (EMT) dynamics and inflammatory signaling.

Methods: Normal and CDH fetal rat lungs were harvested at E17, E19 and E21 - which correlate to pseudoglandular, canalicular, and saccular stages, respectively - and dissociated into single cell suspension. Seurat was used for single cell analysis. Cell types were identified by canonical genes and differential expression of genes were then analyzed. Findings were confirmed by staining. Score for mesenchymal versus epithelial-like characteristics in EMT was calculated.

Results: During normal development, mesenchymal progenitors surround the developing airway undergoing EMT. At E17 in CDH, these cells downregulate Sox9, a plasticity marker, and upregulate extracellular matrix (ECM) proteins and TGFβ signaling molecules. CDH mesenchymal progenitors have an increased EMT score (p < 0.001), meaning more mesenchymal characteristics compared to normal lung. At E21, CDH mesenchyme upregulates TGFβ-2, TGFβR-2, and Smad2/3. CDH alveolar type 1 (AT1) and AT2 cells upregulate Krt8 and Krt18.

Discussion: CDH lung mesenchymal progenitors attain mesenchymal-like characteristics prematurely and there is upregulation of ECM proteins when compared to normal lung. Moreover, CDH distal epithelial cells (Krt8/18+) enter a transitional state that is seen in fibrotic lung diseases. These findings represent imbalance of EMT, and thus dysregulation of key molecular pathways, which leads to poorly developed mesenchymal and epithelial structures that we speculate causes the lung hypoplasia found in CDH.

Hyperbilirubinemia is a common problem during the neonatal period, which can lead to high morbidity and mortality if it is not treated properly. The most common first-line treatment used for hyperbilirubinemia is phototherapy. Glucose-6-phosphate dehydrogenase deficiency (G6PD) can cause indirect hyperbilirubinemia not only with hemolysis but also by affecting bilirubin metabolism in the liver during the neonatal period. In here, we report a three-day-old newborn with severe hyperbilirubinemia who underwent exchange transfusion with a diagnosis of G6PD deficiency to emphasize the importance of keeping in mind erythtocyte enzyme defects in the differential diagnosis of severe indirect hyperbilirubinemia.

Background: Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures.

Methods: We present 2 new cases of mosaic trisomy 2 detected at amniocentesis with previously unreported clinical features and we review the literature of the clinical manifestations of this uncommon aneuploidy.

Results: Cytogenetic analysis of the amniotic fluid culture showed mosaic trisomy 2 (47,XY,+2[9]; 46,XY[19]) (32%) for case 1, and (47,XY,+2[13]; 46,XY[21]) (38%) for case 2 in two independent flask cultures. Our second case presented a new clinical finding non described previously in mosaic trisomy 2 which is occipital schizencephaly associated with hydrocephalus.

Conclusion: Two new cases of mosaic trisomy 2 were detected at amniocentesis with previously unreported clinical features. Prenatal diagnosis of chromosomal mosaic trisomy 2 continues to create a dilemma in genetic counseling because of limited data and variable outcomes.

Introduction: Etiological diagnosis of congenital anomalies greatly influences further reproductive genetic counseling. We herein report our experience of using various modalities for identification of the same. Materials and Methods: Pregnancies undergoing elective termination due to fetal congenital anomaly(ies) detected on antenatal ultrasonography were enrolled. Fetal autopsy, radiological studies and histopathology were done in all cases. Chromosomal Microarray (CMA) and Exome sequencing (ES) was done in selected cases. Results: One hundred seventy-four fetuses were enrolled. In 19.4% of cases a change in diagnosis/recurrence risk was observed based on a finding in autopsy. Utility of radiology and histopathology was observed in 5.7% and 13.4% of a selected subgroup of the cohort respectively. 39 cases (22%) were taken up for genetic testing. In this selected cohort overall positivity rate of genetic testing was 43.5% (28% and 71% for CMA and ES respectively). Conclusion: A phenotype-driven and systematic approach has the highest yield in detecting causes of fetal congenital anomalies.

Objectives: Congenital thoracic mass lesions are generally benign but can cause significant morbidity and mortality due to airway obstruction. This study highlights the role of perinatal autopsy in identifying these lesions and correlates autopsy findings with prenatal imaging.

Materials and methods: A retrospective analysis of fetal autopsies with thoracic mass lesions was conducted over 9 years. A standardized autopsy protocol, including fixation, photography, foetogram, external examination, en-bloc removal, internal examination, and organ block dissection, was followed and compared with prenatal imaging results.

Results: Of 426 fetal autopsies, 20 (4.6%) had thoracic mass lesions. The most common lesion was diaphragmatic hernia (9 cases, 45%), followed by congenital high airway obstruction syndrome (3 cases, 15%). Agreement with prenatal ultrasonography was observed in only 4 cases (20%).

Conclusion: Fetal autopsy is crucial for identifying thoracic mass lesions and determining the cause of death, aiding in genetic counseling and management of future pregnancies.