Search

Abstract Background we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel. Methods We report our experience with patients harboring mosaic monosomy X and Y chromosome material diagnosed by blood cells karyotypes and cared for in our department from 2005 to 2022. Results We have included five infants in our study. The current average age was 8 years. In four cases, the diagnosis was still after born and it was at the age of 15 years in one case. Physical examination revealed a variable degree of virilization, ranging from a normal male phallus with unilateral ectopic gonad to ambiguous with a genital tubercle and bilateral not palpable gonads in four cases and normal female external genitalia in patient 5. Karyotype found 45, X/46, XY mosaicism in patient 1 and 2 and 45, X/46, X, der (Y) mosaicism in patient 3, 4 and 5. Three cases were assigned to male gender and two cases were assigned to female. After radiologic and histologic exploration, four patients had been explored by laparoscopy to perform gonadectomy in two cases and Mullerian derivative resection in the other. Urethroplasty was done in two cases of posterior hypospadias. Gender identity was concordant with the sex of assignment at birth in only 3 cases. Conclusion Because of the phenotypic heterogeneity of this sexual disorders and the variability of its management care, then the decision should rely on a multidisciplinary team approach.

Abstract Introduction Canceling pediatric elective surgery leads to multiple disturbances regarding the inefficient operating room (OR) management, the financial repercussions, and the psychological impact on the patient and his family. This study aims to identify the reasons for cancellations among the pediatric population in our setting and suggest some convenient solutions. Methods We carried out a prospective and descriptive study over 12 months in the pediatric surgery department of Fattouma Bourguiba University Hospital. Results One thousand four hundred twenty-six patients were scheduled for surgery at the pediatric surgery department, of whom 131 (9.2%) were canceled. Medical and anesthesia-related reasons accounted for 62.5% of all cancellations, followed by surgical reasons at 16%, organizational or administrative issues at 11.5%, and patient-related reasons at 10%. The most significant causes were upper respiratory tract infections (URTIs) in 36.6%, abnormal blood test results in 16%, and non-adherence to preoperative fasting in 9.2%. Conclusions The rate of pediatric elective surgery cancellations at Fattouma Bourguiba University Hospital was higher than the accepted average rate (5%). Therefore, to prevent these cancellations as much as possible, efforts should be made to promote children’s medical care, operation scheduling, and efficient institution resource utilization.

Introduction: The rectum villous tumour is an uncommon pathology in paediatrics, it represents 1% of all the children’s malignant tumours. Case Presentation: An eleven-year-old girl presented a rectal adenocarcinoma arising from a villous tumour. The aim of this study is to overview of the literature, asses the frequency of rectum villous tumours, specify the value of the clinical examination, of the radiologic findings in the assessment of the loco-regional extension of villous tumours and rectum adenocarcinoma and finally to discuss the treatment modalities. Conclusion: The rectum villous tumour symptomatology in children is not very specific. Therefore, a good knowledge of its clinical presentation and the predisposing pathological situations can improve the prognosis of this rare disease.

Introduction: Double aortic arch (DAA) is a rare congenital malformation. Strategies for diagnosis and treatment are different. Reports of thoracoscopic treatment of DAA are rare. We report a description of our diagnostic and therapeutic approach and evaluate outcomes. Material & Methods: We reviewed charts of infants with double aortic arch who were hospitalized in our department from 2008 to 2014. Age at symptom onset, clinical presentation, diagnostic modality, operative details and post operative outcomes were retrieved. Results: We identified 7 patients presenting at a median age of 11,8 months (range: 2 months-27 months) and median weight of 10kg. Respiratory symptoms were present in all cases. Difficulties in feedings were present in 3 cases. Chest radiography, oesophagogram and Computed Tomography (CT) with three-dimentional (3D) reconstructions were performed for all patients. One patient had laryngo tracheoscopy and 3 patients echocardiography. The dominant branch was the right one in all cases. Associated cardiac anomaly was found in 1 case. Operative approach was thoracotomy in 3 cases and thoracoscopic video assisted surgery (VATS) in 4 cases. Median operative time was 132 min. Only one patient required conversion. Median hospital stay was 4,1 days. Conclusion: Double aortic arch is a rare malformation which can cause persistent non specific respiratory symptoms in infants. The use of 3D-CT scan reconstruction facilitates diagnosis and the operative approach. Thoracoscopy and thoracotomy are effective procedures even for patients with low body weight. The operative time seems similar for both approaches. Thoracoscopy offers less post-operative analgesia requirement, shorter hospital stay and good cosmetic results.

Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.