Ultrasound Assessment in Children With Suspected Appendicitis: Time to Revise Diagnostic Criteria: A Prospective Cohort Study.

Background: Although ultrasound is considered the gold standard for the evaluation of children with suspected appendicitis, there is still much debate about the most accurate ultrasound findings. The purpose of this study was to define the best ultrasound signs that could ultimately improve the diagnostic accuracy of ultrasound for diagnosing pediatric acute appendicitis, and to differentiate between simple appendicitis and complicated appendicitis. Patients and Methods: After approval by our Institutional Review Board, a prospective study was carried out from January 1, 2022, to July 31, 2023, in a pediatric emergency department. We included all patients aged under 14 years with suspected appendicitis and ultrasound-visualized appendix. Results: A total of 550 patients presented with suspected appendicitis during the study period. Of these children, 411 had an ultrasound-visualized appendix. Our patients' mean age was 9.4 years. The best positive predictive value of ultrasound was found for appendiceal diameter ≥7.5 mm. The combination of an appendiceal diameter <6 mm and the lack of peri-appendiceal free fluid on ultrasound rules out the diagnosis of appendicitis. The best diagnostic accuracy of ultrasound, which was 92%, was achieved for appendix diameters ≥6.5 mm. The sonographic sign giving the best ultrasound accuracy for diagnosing complicated appendicitis was an appendix diameter ≥9 mm. Conclusions: In conclusion, our present study demonstrated that appendiceal diameter ≥6.5 mm is the gold standard for diagnosing appendicitis in pediatric patients. The combination of an appendiceal diameter <6 mm and the lack of peri-appendiceal free fluid on ultrasound would rule out appendicitis.

Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.

Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic pathogenic germline variants in the mismatch repair genes. Diagnosis and management of this syndrome is challenging, especially in low-resource settings. This study describes a patient diagnosed with colorectal cancer and grade 3 astrocytoma at the age of 11 and 12 respectively. Immunohistochemistry analysis showed a loss of MSH2 and MSH6 protein expression in CRC tissues of the patient. We identified by Targeted Exome Sequencing a homozygous pathogenic germline variant in exon 9 of the MSH6 gene (c.3991 C > T; p.Ala1268Glyfs*6). Genetic investigation of the family showed that the father was heterozygous for the identified pathogenic variant while the brother was wild type for this variant. Our study highlights the importance of a correct and timely diagnosis of CMMRD which can have implications for treatment. It also underlines the imperative need to enhance awareness, diagnostic standards, and surveillance that are crucial for patients and their families.

Predictive Factors of Acute Appendicitis in Children With Non-Visualized Appendix on Ultrasound: A Prospective Cohort Study.

Background: Most studies have demonstrated the high accuracy of ultrasound for the diagnosis of acute appendicitis (AA) in children. However, the lack of visualization of the appendix on ultrasound is usually a challenge. The aim of this study was to identify any factors that might help the physician make the right decision when dealing with a child with suspected appendicitis and an appendix not seen on ultrasound. Patients and Methods: After receiving Institutional Review Board approval, we conducted a prospective study in a pediatric emergency department from January 1, 2022, to December 31, 2022. All children under 14 years of age with suspected AA and an appendix not visualized on ultrasound were included. Results: During the study period, 333 children presented with suspected AA. Of these patients, 106 had an appendix not seen on ultrasound. Our patients' median age was 10 years (interquartile range [IQR], 8-11 years), with 54.7% (n = 58) of children being female. Twenty-five (23.6%) were ultimately diagnosed with AA based on pathologic examination. Multivariable logistic regression analysis revealed that Alvarado score ≥6 and increased peri-appendiceal fat echogenicity were predictive for AA. The combination of these two factors provided a positive predictive value of 100%. A white blood cell (WBC) count ≤10 × 109/L and/or a C-reactive protein (CRP) level ≤6 mg/L makes the diagnosis of appendicitis unlikely. Conclusions: In conclusion, our study demonstrated that an Alvarado score at or above six and increased peri-appendiceal fat echogenicity are independent predictive factors of AA in children with non-visualized appendix on ultrasound. The combination of these two factors would confirm the diagnosis of AA in these patients.

Risk factors for adverse outcomes after pediatric pyeloplasty: A retrospective cohort study.

PURPOSE: To identify the risk factors for adverse outcomes after pediatric pyeloplasty. METHODS: We conducted a retrospective review of all children under the age of 14 years who underwent primary pyeloplasty for unilateral ureteropelvic junction (UPJ) obstruction at a single teaching hospital in Tunisia between January 1, 2013, and December 31, 2022. RESULTS: A total of 103 patients were included. Median age of patients at surgery was 27 months (interquartile range [IQR], 13-44). On ultrasound, median renal pelvic anteroposterior diameter was 3.2 cm (IQR, 2.3-4), and the median renal cortex thickness (RCT) was 2.5 mm (IQR, 2-3.5). Median differential renal function (DRF) on preoperative radionuclide renal scan was 40% (IQR, 30-46). Postoperative adverse outcomes occurred in 28 patients (27.2%). These included 19 cases of urinary tract infections (UTIs), 11 cases of UPJ restenosis, four cases of UPJ leakage, two cases of urinoma, and two cases of diversion-related complications. Multivariate logistic regression analysis revealed two factors significantly and independently related to postoperative negative outcomes: RCT <3 mm and DRF > 50%. CONCLUSION: Our study demonstrated that preoperative RCT on ultrasound of less than 3 mm and preoperative DRF on radionuclide renal scan of more than 50% were independent risk factors for adverse outcomes following pediatric pyeloplasty. These factors could be of interest in identifying, early on, patients who will develop postoperative negative outcomes, giving them more attention and support, and explaining the prognosis to the patient and family.

Airway management in a rare case of congenital palate teratoma with a cleft palate: A case report.

Airway management in neonates is difficult because of the risk of rapid hypoxia. It presents a challenge even for an experienced anesthesiologist. Oral tumors in neonates can obstruct the airway or feeding problems in the newborn. Surgical excision is the treatment of choice but these tumors can seriously worsen the conditions of intubation. To surmount these difficulties, a particular multidisciplinary approach and special precautions are needed. We describe the airway management and precautions taken in the anesthesia for surgical removal of a case of large congenital palate teratoma associated with a wide cleft palate in a 25-day-old girl. Impossible intubation was predicted on magnetic resonance imaging. The difficult airway management cart as well as an otorhinolaryngologist skilled in performing emergency tracheostomies in neonates were available. The patient was intubated by conventional laryngoscopy under sevoflurane inhalation anesthesia. The tumor was successfully resected. This case poses a challenge for managing the airway because of the possibility of obstruction of the airway and the difficulty of the airway that radiological exams have allowed us. So, a multidisciplinary team effort is needed for successful neonatal airway management.

A Case of Intra-Amniotic Umbilical Vein Varices Misdiagnosed as an Omphalocele.

Background: Intra-amniotic umbilical vein varices are characterized by a focal dilatation of the extra abdominal umbilical vein. Case report: We report a full-term baby female with extra-abdominal umbilical vein varices misdiagnosed clinically as an omphalocele. The umbilical vein was ligated and excised near the level of the liver. The infant died one day after surgery due to extrinsic compression of the renal pedicle by a massive thrombus, resulting in severe renal failure and life-threatening hyperkalemia despite intensive resuscitation. Conclusion: Large intra-amniotic umbilical vein varices can be clinically misdiagnosed as an omphalocele. Their resection near the level of the fascia, as with normal umbilical veins, could be a better management with a better prognosis.

Phyllodes Tumor of the Bladder in a 2-Year-Old Boy - An Exceptional Finding.

Background: Breast phyllodes tumor has a distinct histologic appearance. There are no pediatric phyllodes tumors of the bladder in English literature reported. Case report: A 2-year-old boy presented with a urinary infection and obstructive urinary symptoms. A 3-cm slow-growing bladder mass revealed by repeated transabdominal ultrasonography was initially considered a ureterocele. Cystoscopic and laparoscopic exploration using pneumovesicum confirmed the diagnosis of a bladder neck tumor. Histologically, the features were of a benign phyllodes tumor, morphologically similar to those seen in breast tissue. The patient received no further treatment and showed no recurrence or metastasis. Conclusion: Phyllodes tumor can cause a pediatric bladder tumor.