Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare nonhereditary skeletal disorder affecting one side of the epiphyses or the epiphyses-equivalents. It is often misdiagnosed for traumatic injuries, infections, or other tumors because of the nonspecific clinical features. The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis. No evidence of malignant changes has been reported and no hereditary transmission or environmental factor has been incriminated as an etiological factor. The natural history of the disease is continuous growth of the lesions until skeletal maturity. Without treatment, the joint might suffer degenerative modification, and the patient can develop early onset osteoarthritis. In the present paper, we report two new cases of DEH of the ankle. The aim of this paper is to consider Trevor’s disease when encountering tumoral masses in the epiphyses of pediatric patients and to present our treatment approach and results.
Abdominal tumor masses are a very rare disease in the fetus. The authors present the first reported case of neonatal multicystic adenomatoid hamartoma of the pancreas associated with well-differentiated fetal epithelial subtype hepatoblastoma and reveal clinical, histologic, and imagistic aspects. Case presentation: A 36-week-old female newborn in whom a 25-week ultrasound showed a relatively homogeneous pancreatic echogenic mass (34 × 30 × 55 mm) with compression of the inferior vena cava and retrograde dilation. Postnatal CT showed a giant pancreatic tumor mass (113 × 70 × 60 mm), with areas enhancing contrast and cystic/necrotic areas and a hypodense, hypocaptive nodule of 8 × 6 mm located at segment IV of the liver; thrombosis of the subhepatic segment of the inferior vena cava and both renal veins. Histopathological and immunohistochemical studies confirmed the diagnosis of multicystic pancreatic adenomatoid hamartoma and well-differentiated fetal epithelial subtype hepatoblastoma. Conclusions: Pancreatic hamartoma can be difficult to diagnose (especially prenatal), with or without nonspecific symptoms. The synchronous presence of hepatoblastoma complicated the therapeutic conduct and prognosis of this case, with the diagnosis being confirmed histopathologically and immunohistochemically after liver biopsy.
Fetal lingual tumors are very rare, and their early prenatal diagnosis is important for defining the subsequent therapeutic strategy. In this study, we aimed to describe a case of a congenital septate lingual cyst and perform an extensive literature review on two main databases (PubMed, Web of Science), analyzing the clinical manifestations, the imaging appearance, the differential diagnosis, and particularities regarding the treatment of these tumors. The electronic search revealed 17 articles with 18 cases of mixed heterotopic gastrointestinal/respiratory oral epithelial cysts that met the eligibility criteria and were included in this review. The clinical case was diagnosed prenatally during second-trimester screening. On the eighth day of life, the fetus underwent an MRI of the head, which revealed an expansive cystic process on the ventral side of the tongue with the greatest diameter of 21.7 mm, containing a septum of 1 mm inside. On the 13th day of life, surgery was performed under general anesthesia, and the lingual cystic formation was completely excised. The postoperative evolution was favorable. The histopathological examination revealed a heterotopic gastric/respiratory-mixed epithelial cyst with non-keratinized respiratory, gastric squamous, and foveolar epithelium. The lingual cyst diagnosed prenatally is an accidental discovery, the differential diagnosis of which can include several pathologies with different degrees of severity but with a generally good prognosis.
Background and Clinical Significance: Ectopic pancreatic tissue (EPT), an infrequently documented condition within the pediatric population, is often asymptomatic. When clinical manifestations do occur, their severity is contingent upon the location, size, and involvement of the adjacent mucosa. Case presentation: This is a case series study, involving six children aged 15 days–13 years diagnosed with EPT from a single institution. Five of the six cases presented with both EPT and ectopic gastric tissue, located at the site of Meckel’s diverticulum, while one case presented EPT exclusively, which was localized in the duodenum I. A case of Littre’s hernia was identified in a newborn. Two of the six cases experienced gastrointestinal bleeding. Due to limited data on EPT in children, a comprehensive review of the literature was conducted to integrate the findings of the case series. The review synthesized evidence on clinical manifestations, diagnostic approaches, phenotypic classifications, and management strategies. Articles were identified through searches on PubMed and publisher platforms such as Elsevier and Wiley Online Library, using keywords like “ectopic pancreatic tissue”, “heterotopic pancreas”, and “pediatric ectopic pancreas”. Conclusions: The identification of EPT continues to pose a diagnostic challenge, as the symptoms are nonspecific and can sometimes be life-threatening. Additionally, there are currently no specific paraclinical investigations available for this purpose. Histopathological evaluation remains crucial for establishing the diagnosis, which is often confirmed only after complications have arisen.
Background and Objectives: This study presents a retrospective analysis of 26 autopsy cases from a single centre, primarily focusing on forensic cases, with a majority of male individuals. Materials and Methods: We systematically analysed autopsy reports and cardiac tissue slides using haematoxylin-eosin stain and immunohistochemistry for CD3, CD163, and IL-6. The histological assessment evaluated key variables such as inflammation severity, necrosis, and background changes using a standardised grading system. Quantitative analysis of immunohistochemical markers was performed, calculating the percentage of positively stained cells within the inflammatory infiltrate. Results: The average age was 51.6 years, slightly skewed towards older males. The fatalities varied widely, with sudden death and drug abuse being the most common conditions linked to myocarditis findings on histological examination. A strong correlation was found between the severity of inflammation (measured by size within a myocardium section) and the scoring system based on the number of inflammatory foci per section (p ≤ 0.001). Most cases showed mild to minimal fibrosis, with some exhibiting moderate to severe fibrosis, arteriosclerosis, and myocyte hypertrophy. The presence of protein CD3 in the inflammatory infiltrate revealed a moderate inverse correlation between the CD3 values and the severity of inflammation and necrosis, and a strong inverse correlation with neutrophil levels. CD3 levels were higher in sudden death cases and lower in cases with numerous inflammatory foci, highlighting the discreet nature of lymphocytic myocarditis. Macrophage presence, assessed using CD163, showed a moderate inverse correlation with neutrophil levels and significant differences between sudden death and non-sudden death cases. Macrophage-rich inflammation was observed in cases with pneumonia/bronchopneumonia-associated lesions. IL-6 expression showed a moderate direct correlation with inflammation severity (p = 0.028), severity of necrosis (p = 0.005), and the number of inflammatory foci per section (p = 0.047). A moderate inverse correlation was found between CD3 and IL-6 expression (p = 0.005). Conclusions: These findings highlight the need for a unique immunohistochemical approach in forensic cases of myocarditis, differing from guidelines for endomyocardial biopsies due to diverse inflammatory cells. The study suggests exploring inflammatory chemokines within myocarditis foci for their significance in clinical scenarios. Specifically, IL-6, a crucial pro-inflammatory interleukin, correlated significantly with the severity of inflammation and necrosis (p < 0.05). This study provides novel and valuable insights into the histopathological and immunological markers of myocarditis in autopsy cases.
Background: Neutrophilic myocarditis often stems from bacterial or fungal infections, and it is typically detectable through blood cultures or analyses of the primary infection site. However, research specifically addressing the morphological features of acute myocarditis in complex sepsis cases is scarce, with existing studies primarily dating back to the pre-antibiotic era. Methods: This study constitutes a retrospective and descriptive analysis encompassing 22 forensic cases. We collected data from forensic reports emphasising clinical details, disease history, gross observations, and histopathological findings. Results: The results show that using positive-air-pressure ventilation could be related to cardiac inflammation (45.45%, 10/22). Despite large-spectrum antibiotic therapy, the blood samples were positive for Staphylococcus aureus (MRSA strain), Klebsiella pneumoniae (ESBL strain), Acinetobacter baumannii, and Pseudomonas aeruginosa. Colonies developed in the myocardium of 36% of the patients (8/22), where 4 of them had septic emboli. Fungal myocarditis accompanied bacterial infections (2/8) and were unsuspected clinically. Background changes, such as interstitial fibrosis and arteriosclerosis, were associated with a greater degree of inflammation and septic embolism. Conclusion: Neutrophilic myocarditis in patients with emerging sepsis is linked to fatal virulent infections, where bacteria and/or fungi contaminate and impair the myocardium syncytium. Prolonged hospitalisation and positive-air-pressure ventilation may be a risk factor for this condition and needs further research.