Background and Objecitves: Appendicitis is one of the most frequent surgical emergencies in pediatric surgery. Complicated appendicitis can evolve with appendicular peritonitis characterized by the diffusion of the pathological process to the peritoneal cavity, thus producing generalized or localized inflammation of the peritoneum. The capacity to anticipate the possibility of perforation in acute appendicitis can direct prompt management and lower morbidity. There is no specific symptom that could be used to anticipate complicated appendicitis, and diagnostic clues include a longer period of symptoms, diffuse peritoneal signs, high fever, elevated leukocytosis and CRP, hyponatremia, and high ESR. Imagistic methods, particularly US and CT, are useful but not sufficient. There are no traditional inflammation biomarkers able to predict the evolution of uncomplicated to complicated appendicitis alone, but the predictive capacity of novel biomarkers is being investigated. Materials and Methods: The present study represents a retrospective evaluation of children hospitalized between January 2021 and July 2022 in the Grigore Alexandrescu Clinical Emergency Hospital for Children with a diagnosis of acute appendicitis settled based on clinical characteristics, traditional and novel biomarkers, and ultrasonographic features. The children were subsequently grouped into two groups based on the existence of appendicular peritonitis on intraoperative inspection of the abdominal cavity. The aim of this report is to establish the predictors that may aid physicians in timely identifying pediatric patients diagnosed with acute appendicitis at risk for developing complicated appendicitis with evolution to appendicular peritonitis. Results: The neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte radio (PLR) are representative severity markers in infections. This report analyzes the benefit of these markers for distinguishing uncomplicated appendicitis from complicated appendicitis in pediatric patients. Conclusions: Our study suggests that a value of neutrophil-to-lymphocyte ratio greater than 8.39 is a reliable parameter to predict the evolution to appendicular peritonitis.

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.

Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of the literature, the importance and frequency of association between the two malformations and what impact this association has on the management and evolution of patients with these pathologies. We reviewed the titles, the available abstracts, and the full texts of 244 papers from the last 23 years, from three medical databases, to extract data for our review. Due to the frequent association of the two malformations and the unfavorable effect of the major cardiac anomaly on the prognosis of the newborn, the electrocardiogram and echocardiography must be included in the first postnatal investigations. The timing of surgery for abdominal wall defect closure is mostly dictated by the cardiac defect severity, and usually the cardiac defect takes priority. After the cardiac defect is medically stabilized or surgically repaired, the omphalocele reduction and closure of the abdominal defect are performed in a more controlled setting, with improved outcomes. Compared to omphalocele patients without cardiac defects, children with this association are more likely to experience prolonged hospitalizations, neurologic, and cognitive impairments. Major cardiac abnormalities such as structural defects that require surgical treatment or result in developmental delay will significantly increase the death rate of patients with omphalocele. In conclusion, the prenatal diagnosis of omphalocele and early detection of other associated structural or chromosomal anomalies are of overwhelming importance, contributing to the establishment of antenatal and postnatal prognosis.

Background and Objectives: Choledocal cyst is a rare congenital disease of the biliary tree defined by dilatation of the extrahepatic and/or intrahepatic biliary ducts. Untreated, it leads to complications such as cholangitis, stone formation and malignant degeneration. The standard treatment for choledocal cyst is complete excision and subsequent biliary reconstruction via hepaticojejunostomy or hepatiocoduodenostomy. Materials and Methods: We report our experience with 16 pediatric cases of choledocal cyst over a 10-year period. Results: The predominant symptoms were nausea and jaundice, both at 62.5% (n = 10), followed by abdominal pain at 56.3% (n = 9). Ultrasonography was the diagnostic method used in all patients. Computed tomography was used in 75% (n = 12) and magnetic resonance imaging in 25% (n = 4) of cases. Age at the time of intervention ranged from 2 months to 17 years with a mean of 4 years and 5 months. The open approach was used in nine patients and the laparoscopic approach was used in seven patients, with one conversion to open surgery. Complete excision of the choledocal cyst was performed in 15 cases (93.7%), and partial excision with mucosectomy was performed in one case (6.2%). Eight patients (50%) underwent hepaticoduodenostomy and eight (50%) underwent hepaticojejunostomy, out of which one was attempted laparoscopically but was converted. We had a postoperative complication rate of 12.5% (n = 2) represented by anastomotic leak and pancreatitis. Conclusions: From our experience with these cases, we concluded that a wide hepaticoduodenostomy constitutes a favorable choice over the traditional hepaticojejunostomy, being more physiological and less time consuming.

Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs. The aim of this study is to identify the genetic variants associated with a group of patients who presented clinical signs suggestive of a syndromic form of HTAD. Genetic testing based on next-generation sequencing (NGS) technology was performed using a gene panel (Illumina TruSight Cardio Sequencing Panel) or whole exome sequencing (WES). In the majority of cases (8/10), de novo mutations in the FBN1 gene were detected and correlated with the Marfan syndrome phenotype. In another case, a known mutation in the TGFBR2 gene associated with Loeys–Dietz syndrome was detected. Two other pathogenic heterozygous variants (one de novo and the other a known mutation) in the SLC2A10 gene (compound heterozygous genotype) were identified in a patient diagnosed with arterial tortuosity syndrome (ATORS). We presented the genotype–phenotype correlations, especially related to the clinical evolution, highlighting the particularities of each patient in a family context. We also emphasized the importance of genetic testing and patient monitoring to avoid acute aortic events.

Background. Wilms’ tumour or nephroblastoma is the most common renal malignancy encountered in the paediatric population. Imaging findings are of great importance to the surgeon, the oncologist and the radiologist in the diagnosis and the staging and surveillance of this tumour. Material and Methods. This study was carried out as a 10-year retrospective study of patients who were diagnosed with Wilms’ tumour. Results. The study included 12 boys and 11 girls. Ultrasound and computed tomography were performed in all cases. Ultrasonography was found to be superior to the CT examination when approximating the antero-posterior and transverse diameters; the computer-tomographic examination is cited as superior for estimating the invasion of nephroblastomas. Conclusions: Ultrasound has been shown to be effective in detecting the rupture of the renal capsule, tumour calcifications and invasion of the renal vein, pelvis and ureter. However, ultrasound cannot replace CT in the detection of lymphadenopathy and the invasion of adjacent organs.