Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.

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.

Staphylococcus aureus costal osteomyelitis with complicated by pleural effusion in a 7-month-old infant: A misleading clinical presentation.

Osteomyelitis is a rare infectious disease in children, predominantly affecting long bones; however, its clinical presentation can be ambiguous if the location is atypical. Costal osteomyelitis is very rare in children and can mimic other pathologies. We present a case of a seven-month-old infant diagnosed with costal osteomyelitis complicated by rupture of a subperiosteal abscess into the pleura. His clinical condition improved with conservative treatment, which included chest drain insertion and intravenous antibiotic therapy without the need for surgical debridement. Rib osteomyelitis represents a potentially severe condition. Early detection is imperative to prevent the necessity for invasive therapies and mitigate long-term complications.

Management of trichobezoar: About 6 cases.

BACKGROUND: Trichobezoar is an uncommon clinical entity in which ingested hair mass accumulates within the digestive tract. It is generally observed in children and young females with psychological disorders. It can either be found as an isolated mass in the stomach or may extend into the intestine. Untreated cases may lead to grave complications. MATERIAL AND METHODS: We retrospectively analyzed the clinical data of six patients treated for trichobezoar in Monastir pediatric surgery department during 16-year-period between 2004 and 2019. Imaging (abdominal computed tomography and upper gastroduodenal opacification) and gastroduodenal endoscopy were tools of diagnosis. RESULTS: Our study involved 6 girls aged 4 to 12. Symptoms were epigastric pain associated with vomiting of recently ingested food in 3 cases and weight loss in one case. Physical examination found a hard epigastric mass in all cases. The trichobezoar was confined to the stomach in 4 cases. An extension into the jejunum was observed in 2 cases. Surgery was indicated in all patients. In two cases, the attempt of endoscopic extraction failed and patients were then operated on. All patients had gastrotomy to extract the whole bezoar even those with jejunal extension. Psychiatric follow-up was indicated in all cases. The six girls have evolved well and did not present any recurrence. CONCLUSION: open surgery still plays a crucial role in Trichobezoard management . After successful treatment, psychiatric consultation is imperative to prevent reccurrence and improve long term prognosis.

Intussusception Caused by Heterotopic Pancreas: A Tunisian Case Series of 5 Pediatric Patients.

Heterotopic pancreas (HP) is a rare congenital developmental anomaly of the gastro-intestinal tract, defined as the presence of pancreatic tissue found in ectopic sites. Intussusception caused by isolated HP is extremely rare. Pediatric reports concerning this pathology are case reports. Here, we report cases of secondary intussusception, in which conservative treatment failed and surgery was performed. The aim of this review is to study the epidemiologic and clinical aspects of HP in pediatric patients from our institution. We retrospectively collected patients who were treated in the pediatric surgery department for intussusception caused by HP, from January 1986 to November 2018. We investigated five patients, three boys and two girls, aged 5 months to 2 years. The diagnosis was made incidentally during the operation. HP was found in the jejunum in three cases and in the ileum in two cases. HP was removed. The postoperative course was uneventful. Although rare, HP should be included in the differential diagnosis of gastrointestinal diseases, causing secondary bowel intussusception.

Novel biomarkers for the early prediction of pediatric cystic echinococcosis post-surgical outcomes.

OBJECTIVE: This study aims to search for reliable serological biomarkers allowing the early prediction of cystic echinococcosis (CE) post-operative outcomes. METHODS: We applied immunoprecipitation (IP) of Echinococcus granulosus protoscolex antigens with pediatric CE patients' plasma collected at 1-month and 1-year post-surgery, followed by Liquid Chromatography with tandem mass spectrometry (LC-MS/MS). We compared IP proteomic content from relapsed patients within the first-year post-surgery (RCE) to cases with no relapses until 3 post-operative years (NRCE). Selected proteins were recombinantly synthesized and assessed for their prognostic performance by Enzyme-linked immunosorbent assay (ELISA). RESULTS: A total of 305 immunoreactive parasitic proteins were identified, 59 of which were significantly more abundant in RCE than NRCE for both time-points. Four proteins showed the most promising characteristics for predicting CE outcomes: cytoplasmic malate dehydrogenase (Eg-cMDH), citrate synthase (Eg-CS), annexin A6 and severin. ELISA-IgG against the four markers were significantly lower at 1-year post-surgery than 1-month in NRCE, in contrast to RCE that displayed either stable or higher levels. The Eg-cMDH and Eg-CS showed the best prognostic performance, with respective probabilities of being "relapse-free" of 83% and 81%, if a decrease of IgG levels occurred between 1-month and 1-year post-surgery. CONCLUSION: The Eg-cMDH and Eg-CS are promising biomarkers to predict early CE post-surgical outcomes.

[Ureterocele associated with simplex ureter in children: clinical and therapeutic features]. / Urétérocèle sur uretère simplex chez l'enfant: aspects cliniques et thérapeutiques.

Ureterocele is a pseudo-cyst dilation of the terminal submucosal ureter. It is a rare malformative uropathy, in particular associated with simplex ureter. We conducted a retrospective study over a period of 10 years. Twelve medical records of patients whose data were collected at the Department of Paediatric Surgery of Monastir between 2006 and 2016 were examined. The average age of patients was 2.7 years (ranging from 7 days to 11 years) with a sex ratio of 1. Patients´ clinical status was dominated by fever due to upper urinary tract infection. Diagnosis was mainly based on renal bladder ultrasound, intravenous urography (IVU) and retrograde urethrography and cystography. Ureterocele was unilateral in 10 cases and bilateral in 2 cases (on a total of 14 cases). It was associated with simplex ureter in all cases and all patients underwent endoscopic surgery. No perioperative adverse event was reported. The postoperative course was uneventful. Clinical and radiological improvements were reported in all cases. Ureterocele associated with simplex ureter is a very rare urinary abnormality. Early diagnosis is essential to avoid upper urinary tract involvement. Endoscopic treatment is a good alternative leading to satisfactory results.

Femoral hernia in children: How to avoid misdiagnosis?

BACKGROUND: Femoral hernias are an uncommon groin pathology among pediatric patients. Therefore, they are frequently misdiagnosed. In the present study, we review our experience with this rare surgical entity during the past 25 years. METHODS: The medical records of 19 patients who underwent 22 femoral hernia repairs between January 1994 and December 2019 were retrospectively analysed. RESULTS: Patients' age ranged from 2 to 12 years (mean age was 5. 5 years) with an approximately equal sex ratio (10 girls/9 boys). There were three bilateral cases identified separately. They were discovered and managed at different times. All the children were referred with a groin lump, but the correct pre-operative diagnosis was made in only 13 cases (59%). In the remaining cases, four were identified intraoperatively following negative exploration for a supposed inguinal hernia. The other five were found to have a femoral hernia 1 month to 12 months after ipsilateral inguinal hernia repair. All patients underwent elective surgery. The femoral canal was closed using either Lytle or McVay procedure. Recurrence occurred in only one patient 2 months after initial repair. CONCLUSION: Femoral hernias are often misdiagnosed. Pre-operative diagnosis can be obtained through careful clinical assessment. In equivocal cases, ultrasonography and laparoscopy could be useful. A correct pre-operative diagnosis will lead to suitable treatment, thus avoiding unnecessary reoperations and their related complications.

Isolated central sterna clefts: A rare congenital malformation.

Sternal cleft is a rare congenital anomaly which is generally observed at birth. The aetiology remains obscure. Superior clefts are more frequent than inferior ones, and isolated central clefts are extremely rare. Surgery is recommended to protect the heart and other mediastinal contents from trauma and also to improve respiratory dynamics. We present the case of a newborn with isolated central clefts and we will give a review of the literature.

Peritoneal Hydatid Cysts in Children: A Case Series of Rare Echinococcosis Localization.

Peritoneal hydatid cysts are rare in children even in endemic areas. The primary or secondary origin of this site remains controversial, especially in children. Secondary peritoneal hydatid cysts are mainly the result of spontaneous or traumatic rupture of concomitant liver cysts or the leakage of cystic content during surgery. The purpose of our study is to present the largest case series of peritoneal hydatidosis in children. In addition, we aimed to assess the clinical and paraclinical findings as well as the management of echinococcosis at this location in children. The present case series is a study of ten children with peritoneal hydatid cysts, who underwent surgical intervention between 2013 and 2018 in the Pediatric Surgery Department, University of Monastir (Monastir, Tunisia). The mean age of the children was six years. All children presented abdominal pain, and underwent ultrasonography and contrast-enhanced computed tomography of the abdomen. Two patients had been operated on for lung hydatid cysts six months prior to the study. In two cases, radiologic investigations revealed the presence of an uncomplicated hepatic hydatid cyst located in segments II and IV. All patients underwent surgery, of which four underwent laparoscopy. Post-surgery, all patients received albendazole for three months, and the follow-up period was uneventful. Currently, all patients are in good health. Peritoneal hydatid disease is frequently secondary to the rupture of a primary hepatic cyst. Diagnosis is performed by abdominal ultrasound, computed tomography, and a positive serology result. Open or laparoscopic excision can be combined with medical treatment.

Capitonnage seems better in childhood pulmonary hydatid cyst surgery.

BACKGROUND: Pulmonary hydatid disease remains an important healthcare problem. Conservative operative interventions including cystotomy or cystotomy with capitonnage are the two commonly used techniques. However, there is no scientific consensus over selection of these operative interventions. AIM: The aim of this study is to compare these two methods: capitonnage and uncapitonnage in the surgery of childhood pulmonary hydatid cyst in regard to the postoperative period. METHODS: This is a retrospective analysis of 136 patients operated for pulmonary hydatid disease between January 2010 and July 2017 according to two techniques. Group A was cystotomy with capitonnage (n = 76), and group B was cystotomy alone (n = 60). We compared the postoperative outcomes. RESULTS: Our data showed pneumothorax(PNO) and emphysema were seen in 30% of Group B and only in 13.2% in Group A, and the persistence of residual cavity in 23.3% in Group B and 7.9% in Group A (p = 0.014). We have not seen any case of recurrence with capitonnage. CONCLUSION: We conclude that capitonnage appears to prevent PNO and emphysema formation and a remaining residual cavity in the long term with a significant difference. And it prevents prolonged postoperative air leak and hospitalization with a slightly nonsignificant difference. It is difficult to say with absolute certainty that the noncapitonnage group is inferior to the capitonnage group, since several factors can influence the evolution. TYPE OF STUDY: Clinical research article Level of evidence III.

A New Operative Approach for Long-Gap Esophageal Atresia.

Surgical management of long-gap esophageal atresia (LGEA) remains challenging. Yet, there is a consensus among pediatric surgeons to preserve native esophagus. We used a new surgical technique to successfully manage three children diagnosed with LGEA. This technique consists of a combined thoracic and cervical approach to the EA repair using the patient's native esophagus. All patients initially had had gastrostomy and continuous upper pouch suction while awaiting surgery. This new technique has the potential to become the choice method in LGEA management.

Male Gender and Prematurity are Risk Factors for Incarceration in Pediatric Inguinal Hernia: A Study of 922 Children.

OBJECTIVES: The purpose of this study was to document clinical features of inguinal hernia (IH) in the pediatric population. It provides data to evaluate associated risk factors of incarcerated hernia, its recurrence as well as the occurrence of contralateral metachronous hernia. MATERIALS AND METHODS: We report a retrospective analytic study including 922 children presenting with IH and operated from 2010 to 2013 in our pediatric surgery department. RESULTS: We managed 143 girls (16%) and 779 boys (84%). The mean age was 2 years; the right side was predominantly affected (66.8%, n = 616). Incarcerated hernia was documented in 16% of cases with an incidence of 33% in neonates. The incarceration occurrence was 15.5% in males versus 2.09% in females. The surgical repair was done according to Forgue technique. Postoperatively, four cases of hernia recurrence were documented, and contralateral metachronous hernia was reported in 33 children with 7.7% females versus 2.8% males. Forty-five percent of them were infants. The mean follow-up period was 4 years. We think that incarceration can be related to several risk factors such as feminine gender, prematurity, and the initial left side surgical repair of the hernia. CONCLUSION: IH occurs mainly in male infants. Prematurity and male gender were identified as risk factors of incarceration. Contralateral metachronous hernia was reported, especially in female infants and after a left side surgical repair of the hernia.

Priapism in the Newborn: Shall We Intervene?

Idiopathic neonatal priapism is rarely published. We report the case of a newborn presenting with priapism on the first day of life and reviewed the published data on the management and the follow up of this condition.

Right Congenital Diaphragmatic Hernia Associated With Hepatic Pulmonary Fusion: A Case Report.

We present a case of male newborn presented with respiratory distress at 21 hours of life. The patient was operated for right congenital diaphragmatic hernia (CDH). Hepatic pulmonary fusion (HPF) was found at surgery.

Genetic relationship between the Echinococcus granulosus sensu stricto cysts located in lung and liver of hosts.

G1 genotype of Echinococcus granulosus sensu stricto is the major cause of hydatidosis in Northern Africa, Tunisia included. The genetic relationship between lung and liver localization were studied in ovine, bovine and human hydatid cysts in Tunisia. Allozyme variation and single strand conformation polymorphism were used for genetic differentiation. The first cause of genetic differentiation was the host species and the second was the localization (lung or liver). The reticulated genetic relationship between the liver or the lung human isolates and isolates from bovine lung, is indicative of recombination (sexual reproduction) or lateral genetic transfer. The idea of two specialized populations (one for the lung one for the liver) that are more or less successful according to host susceptibility is thus proposed.

First molecular evidence of the simultaneous human infection with two species of Echinococcus granulosus sensu lato: Echinococcus granulosus sensu stricto and Echinococcus canadensis.

Cystic echinococcosis is a widespread zoonotic parasitic disease especially in Tunisia which is one of the most endemic countries in the Mediterranean area. The etiological agent, Echinococcus granulosus sensu lato, implies dogs and other canids as definitive hosts and different herbivore species as intermediate hosts. Human contamination occurs during the consumption of parasite eggs passed in the environment through canid feces. Hydatid cysts coming from a child operated for multiple echinococcosis were collected and analyzed in order to genotype and to obtain some epidemiological molecular information. Three targets, ribosomal DNA ITS1 fragment, NADH dehydrogenase subunit 1 (nad1), and mitochondrial cytochrome c oxydase subunit 1 (CO1) genes, were amplified and analyzed by RFLP and sequencing approach. This study presents the first worldwide report in human of a simultaneous infection with Echinococcus granulosus sensu stricto (genotype G1) and Echinococcus canadensis (genotype G6) species. This is also the first report of the presence of E. canadensis in the Tunisian population which argues in favor of a greater importance of this species in human infestation in Tunisia than previously believed.

Management of digestive lesions associated to congenital epidermolysis bullosa.

BACKGROUND: Congenital epidermolysis bullosa (CEB) is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA) and oesophageal stenosis (OS) are considered the most serious digestive lesions to occur.The aim of this work is to study the management and the outcome of digestive lesions associated to CEB in four children and to compare our results to the literature. PATIENTS AND METHODS: A retrospective study of four observations: Two cases of PA and two cases of OS associated to CEB managed in the Paediatric Surgery Department of Fattouma Bourguiba Teaching Hospital in Monastir, Tunisia. RESULTS: Four patients, two of them are 11 and 8 years old, diagnosed as having a dystrophic epidermolysis bullosa since the neonatal period. They were admitted for the investigation of progressive dysphagia. Oesophageal stenosis was confirmed by an upper contrast study. Pneumatic dilation was the advocated therapeutic method for both patients with a favourable outcome. The two other patients are newborns, diagnosed to have a CEB because of association of PA with bullous skin lesions with erosive scars. Both patients had a complete diaphragm excision with pyloroplasty. They died at the age of 4 and 3 months of severe diarrhoea resistant to medical treatment. CONCLUSION: Digestive lesions associated to CEB represent an aggravating factor of a serious disease. OS complicating CEB is severe with difficult management. Pneumatic dilatation is the gold standard treatment method. However, the mortality rate in PA with CEB is high. Prenatal diagnosis of PA is possible, and it can help avoiding lethal forms.

[Biliary atresia and polysplenia syndrome]. / Atrésie des voise biliaires et syndrome de polysplénie.

Polysplenia syndrome is a rare malformation characterized by the association of multiple rates and other congenital anomalies dominated by cardiac, vascular, intestinal and bile malformations. We report the observation of a patient operated in the neonatal period (3 days) for an upper intestinal obstruction with situs inversus. Surgical exploration noted the presence of multiple rates, a preduodenal vein, a biliary atresia and a duodenal atresia. The surgical procedures performed were a latero-lateral duodeno-duodenostomy and hepatoportoenterostomy of KASAI with simple immediate and delayed outcomes. The follow up was of 23 years. We recall the epidemiological characteristics of this malformative association and we discuss the role played by the prognosis of polysplenia syndrome in the evolution of biliary atresia. The diagnosis and treatment of biliary atresia are always urgent to increase the chances of success of the Kasai, and the chances of prolonged survival with native liver. However, almost all long-term survivors (even anicteric) have biliary cirrhosis, which requires lifelong follow up.