Fetal and Pediatric Pathology最新文献

Background: Meckel-Gruber syndrome (MGS) is a rare disease with a fatal, autosomal recessive inheritance pattern. This article mentions the neonatal MGS case followed by intestinal atresia and meconium pseudocyst clinic. Case presentation: Bile-containing-fluid was aspirated from the fetus, which was found to have polyhydramnios, gastric dilatation, lung hypoplasia, and cystic formation with a diameter of 68*62mm in the abdomen at 32 weeks of gestation in the intrauterine period. The cyst recurred after 2 weeks. We operated the patient with the preliminary diagnosis of meconium pseudocyst due to intrauterine perforation. The general condition was moderate in the postoperative period, and intermittent bilious vomiting continued. We performed an ileostomy on the patient due to his inability to tolerate oral intake, lack of passage, and abdominal distension. In addition, as a result of liver biopsy, cholestasis, cholestatic changes, bile-duct loss, and ductular reaction were detected. According to the current clinical findings and genetic analysis results, the patient was diagnosed with MGS. Conclusion: Autosomal recessive, fatal diseases such as MGS are pathologies with a high probability of recurrence with each pregnancy. Therefore, awareness needs to be increased to prevent these diseases.

Background: The role of inflammatory cytokines in Kawasaki disease (KD) pathogenesis is known, but causal relationships are unclear. This study investigates these connections using Mendelian randomization (MR).

Methods: Genetic variations associated with KD were obtained from a GWAS including 119 cases and 6071 controls of European ancestry. Genetic data on inflammatory cytokines were sourced from a GWAS of 8,293 healthy participants.

Results: The study identified significant associations between higher levels of macrophage colony stimulating factor (M-CSF), monocyte chemotactic protein-1 (MCP-1), and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and increased risk of KD. The odds ratios (OR) were 1.04 (95% CI: 1.01-1.08, p = 0.010) for M-CSF, 1.03 (95% CI: 1.01-1.05, p = 0.026) for MCP-1, and 1.02 (95% CI: 1.01-1.04, p = 0.027) for TRAIL.

Conclusion: This study suggests that M-CSF, MCP-1, and TRAIL are potentially involved in the etiology of KD.

Introduction: Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). Methods: Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. Results: WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. Discussion: The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.

Introduction: Placental mesenchymal dysplasia (PMD), rare vascular and connective tissue placental anomaly can be associated with fetal intrauterine growth restriction (IUGR), stillbirth, Beckwith-Wiedemann syndrome (BWS), some chromosomal abnormalities, or phenotypically and genetically normal fetuses [1]. We reviewed a PMD case from our institution characterized by a previously undescribed chromosomal abnormality along with an unreported histopathologic finding.

Background: Caruncular sebaceous gland hyperplasia (SGH) is an uncommon, benign lesion. Its cause is still unclear. It has not been reported in the pediatric population, with few cases diagnosed in the fourth to eighth decades of life. Case Report: A 6-year-old boy presented with a slowly growing caruncular mass in the right eye. A diagnosis of caruncular SGH was made by histopathology. The clinical, histopathology, treatment, and prognosis are reviewed. Conclusion: This is the first described pediatric case of caruncular SGH that occurs since birth. There are many similarities between adult and pediatric caruncular SGH. Surgical excision is the recommended treatment.

Background: This meta-analysis aims to evaluate the potential link between common variations in the Surfactant Protein-B (SFTPB) gene and the risk of bronchopulmonary dysplasia (BPD) in preterm neonates.

Methods: All pertinent articles published prior to February 1, 2024, in PubMed, Web of Science, EMBASE, CNKI, and Scopus databases were reviewed.

Results: Nineteen case-control studies involving 1149 BPD cases and 1845 non-BPD controls, were analyzed. Combined data indicated a significant link between SFTPB -18 A > C and Intron 4 VNTR polymorphisms with increased BPD susceptibility, while the 1580 C > T polymorphism provides a protective impact on BPD initiation.

Conclusions: Pooled data indicated a significant association between SFTPB -18 A > C and Intron 4 VNTR polymorphisms with increased BPD risk, whereas the 1580 C > T polymorphism confers protection. These findings suggest a genetic susceptibility to BPD, underscoring the complex interplay of different genetic elements in its development.

Background: Autopsy has been a gold standard in cases of antenatal detected anomalies or fetal demise. This helped clinicians in getting insights into the future management. In current times, ultrasound and genomic testing has become extremely powerful in further refining the etiological basis; however, fetal autopsy still has its role even now. Material and Methods: We have discussed the utility of fetal autopsy in current times by diving the cases in seven groups. Results: Case based discussions to discuss the utility of fetal autopsy. Conclusions: We suggest that fetal autopsy should be the standard of care in case of any abnormal fetal outcomes alongwith fetal genomic testing. Fetal autopsy is complementary to the ultrasound assessment and genomic investigations in reaching the final diagnosis and provides invaluable information regarding recurrence risk which may not be available when couple plans next pregnancy.

Introduction: Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with BCOR genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by BCOR rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis. Patients: We describe two cases of orbital sarcomas with BCOR genetic alterations. Results: Both girls, 8 and 16 months of age, respectively, presented with progressive proptosis. Both tumors showed sheets of round to ovoid cells with monomorphic nuclei and frequent mitoses. Delicate branching capillaries and myxoid stroma were absent. Diffuse BCOR, cyclin D1, and SATB2 immunopositivity was present. Conclusion: Orbital sarcomas with BCOR genetic alterations are extremely rare. Pathologists should have high index of suspicion for novel genetically defined entities in the differential diagnosis of pediatric orbital URCS and perform appropriate ancillary tests for accurate diagnosis.

Objectives: Reporting new neuropathological findings and clinicopathological correlations in Cornelia de Lange syndrome.

Methods and results: Cornelia de Lange syndrome has received much attention for its genetics, biochemistry, clinical approach and management, but neuropathological studies are extremely rare. Diffuse hypoplasia of the entire brain, mainly affecting the frontal cortex and, less frequently, the cerebellum, has long been the paradigm for neuropathological findings in rare affected patients. This comprehensive neuropathological study of an affected newborn demonstrates nerve cell heterotopies, poor periventricular matrix and significant hypoplasia of both hippocampi, while Golgi staining of cerebellar tissue samples shows features of nerve cell immaturity.

Conclusions: The importance of Cornelia de Lange syndrome as a cohesinopathy and some new neuropathological findings provide an opportunity to discuss and establish interesting clinicopathological correlations, especially with regard to the global intellectual disability of these patients.