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.

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.

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.

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.

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.

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.

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: experience of a nord africain center.

BACKGROUND: Biliary atresia (BA) is a progressive inflammatory destructive process of the bile ducts occurring in about one of every 20.000 live births. If left untreated, biliary atresia can lead to liver failure. AIM: This is the first study on biliary atresia from Africa. The Aim of our study is to describe the clinical and prognostic aspects of biliary atresia in a Tunisian medical centre, where integrated medico-surgical management of children with liver diseases is lacking and liver transplant is not available. METHODS: Patients who were diagnosed with BA and underwent portoenterostomy between January 1985 and December 2010 at a tertiary regional hospital in Tunisia were included in this analysis. RESULTS: 74 patients were diagnosed with BA. The patients included 34 boys (45.9%) and 40 girls (54.1%). All patients received Kasai operation as the primary treatment and the median patient age at Kasai operation was 60 days (range 3-180 days). The median followup time for the patients was 72 months (range 2 months-23 years 6 months). Out of the 74 patients who received Kasai operation, 49 patients are being followed regularly in the outpatient clinic. Eight patients died immediately after Kasai operation by either hepatocellular decompensation or by cholangitis. Seventeen patients were lost to follow-up. Fifteen out of 49 patients who underwent portoenterostomy for BA are alive at median six years following Kasai intervention. Ten patients out of the 49 who are being followed regularly were Jaundice free. Two patients had portal hypertension. All these patients had survived. Five patients survived with signs of liver failure in four cases. Two of them had received a liver transplant abroad. Survival with the native liver was 6.7 % at 5 years with Kasai operation alone. CONCLUSION: BA still has a very severe prognosis in Tunisia Reducing the age at Kasai operation remains the most important target to reduce the need for LT in infancy and childhood. Centralised care will help to build surgical expertise.

[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.

Lipoblastoma in childhood: about 10 cases.

BACKGROUND: Lipoblastoma is a rare benign mesenchymal tumour of embryonal fat that occurs almost exclusively in infants and children. This determined the epidemiological, clinical and therapeutic aspect of this disease. MATERIALS AND METHODS: A total of 10 cases of pathologically proven lipoblastoma from 2003 to 2012 were reviewed. RESULTS: There were six boys and four girls ranging in age from 7 months to 9 years. A soft-tissue mass was the main complain in nine patients. The various locations of the mass were mediastinal, thigh, buttock, inguino-scrotal, the greater omentum and the Latissimus dorsi. Lesions measured 5-15 cm. complete excision was done. The median time of follow-up was 42 months (ranges between 18 and 84 months). There were no recurrences. CONCLUSION: It is important to consider lipoblastoma in the diagnosis of a rapidly enlarging fatty mass in children. Complete resection is the only definitive treatment and should not be delayed when impingement on surrounding structures is imminent. There is a tendency for these lesions to recur despite presumed complete excision. Therefore, follow-up for a minimum of 5 years is recommended.

Gastric perforation in the newborn.

BACKGROUND: Gastric perforation in neonates is an uncommon condition. It could be spontaneous but a contributing cause should be sought. AIM: To review our experience of treating 8 neonates with gastric perforation over the past 20 years. METHODS: We reviewed the records of all newborns admitted to our hospital between 1990 and 2010 with regard to gender, age at admission, contributing factors, associated anomalies, site of perforation, type of operation, and outcome. RESULTS: Of the eight neonates, five were female and three male. The average weight was 2130 g. Four babies were premature. Three infants were ventilated for respiratory difficulty. Five patients had associated anomalies. Perforation occurred in the lesser curvature in 4, at the greater curvature in 3, and at the anterior antrum surface in 1. All patients were treated with gastrorrhaphy. Four neonates required additional gastrostomy. Mortality was 75% (6 infants). CONCLUSION: Active perinatal management, early treatment of primary pathologies, and protection of the stomach against distension in neonates at risk are essential in the management of neonatal gastric perforation.

Pyloric atresia: A report of ten patients.

Pyloric atresia (PA) is uncommon. It occurs in 1:100000 live births. Neonates usually present soon after birth with copious non-bilious vomiting. The treatment is surgical and its prognosis is poor, especially, when it is associated with epidermolysis bullosa (EB). The aim of this study was to evaluate the clinical presentation, diagnosis, operative management, post-operative courses, and outcome in infant with PA, based in our cases and literature review. Charts of 10 patients who underwent surgery for PA in the department of paediatric surgery in a Teaching Hospital in Tunisia (Monastir) between 1990 and 2012 were reviewed. Data were analysed for demographic, clinical, therapeutic, and prognostic characteristics. The average of age at presentation was 2 days and there were six males and four females. The main presenting symptoms were non-bilious vomiting in 90% of cases. Abdominal X-ray showed gastric dilatation with an absence of gas in the rest of the intestinal tract in 90%, and a pneumoperitoneum in one. The surgical approach was laparotomy in all cases. Gastric perforation was observed in one patient and was completely repaired. The distribution of the anatomic variations was type A in nine cases and type B in one. Five patients underwent excision of the diaphragm and Heineke-Mikulicz pyloroplasty and gastroduodenostomy in the other five cases. Identified associated anomalies were Down's syndrome in one and EB in 2 (20%), one family has three affected sibling. Post-operative mortality rate was 70%. No standard surgical approach can be adopted a better management of PA or the associated anomalies depends on an early diagnosis and the availability of neonatal intensive care unit.

Recurrent intussusception in children and infants.

BACKGROUND: Recurrent intussusceptions in child and infants are problematic and there are controversies about its management. The aim of this study is to determine the details of the clinical diagnosis of recurrent intussusception and to determine the aetiology of recurrent intussusceptions. PATIENTS AND METHODS: It's a retrospective study of 28 cases of recurrent intussusception treated in the paediatric surgery department of Monastir (Tunisia) between January 1998 and December 2011. RESULTS: During the study period, 505 patients were treated for 544 episodes of intussusception; there were 39 episodes of recurrent intussusceptions in 28 patients; the rate of patients with recurrence was 5.5%. With comparison to the initial episode, clinical features were similar to the recurrent episode, except bloody stool that was absent in the recurrent group (P = 0,016). Only one patient had a pathologic local point. CONCLUSION: In recurrent intussusception, patients are less symptomatic and consult quickly. Systematic surgical exploration is not needed as recurrent intussusceptions are easily reduced by air or hydrostatic enema and are not associated with a high rate of pathologic leading points.

Congenital pancreatic cyst with Ivemark II syndrome: a rare case.

An infant with congenital pancreatic cyst with Ivemark II syndrome is reported because it is a rare association. The infant had associated situs inversus, asplenia, and complex congenital heart disease. The pancreatic cyst was successfully managed by cystoduodenostomy because of connection to the biliary tract. The infant succumbed as a result of heart failure at age 2 months. Prognosis depends on the presence of life-threatening malformations.

Bilateral ovarian serous borderline tumor with a giant non-invasive peritoneal implant in a four-year-old girl.

Epithelial ovarian tumors are uncommon before 20 years of age and rarely occur before puberty. The vast majority of these tumors are benign, and few cases of malignant and borderline tumors are described. We report a case of a 4-year-old premenarchal girl, previously healthy, who presented with two abdominal masses. Laboratory analysis of blood showed elevation of the serum level of the CA-125. Ultrasonographic examination disclosed bilateral cystic ovarian masses. Laparoscopic exploration revealed bilateral ovarian multicystic masses with retro-uterine peritoneal implant. Bilateral salpingo-oophorectomy with implant resection was performed. Histologic findings were consistent with a serous borderline tumors of both ovaries and the peritoneal implant was of the non-invasive type. There is no evidence of recurrence at 3-year follow-up. To our knowledge, there are only four cases of ovarian borderline tumors in premenarchal girls reported in the English literature: three of the mucinous type and only one of the serous type.

Management of multiple echinococcosis in childhood with albendazole and surgery.

BACKGROUND/PURPOSE: Multiple echinococcosis (ME) is a severe disease in childhood inaccessible to an initial radical surgical treatment. The aim of this study was to evaluate the efficacy of Albendazole in ME and to discuss the role of surgery in this pathology. METHODS: Eleven patients were included in a prospective study between 1996 and 2004. ME was defined by the presence of 10 or more cysts in the same organ. Albendazole was given as 10 mg/kg daily continuously. Treatment outcome was defined as cure, improvement, stabilization or deterioration. Surgery was discussed after 1 year of treatment. RESULTS: Our patients totalized 296 cysts located essentially on the liver (178 cysts) and the lungs (78 cysts). With exclusive Albendazole therapy, 57.7% pulmonary cysts and 96% peritoneal cysts were considered as cured. This rate was only 31.5% in hepatic localization. After surgical therapy, 67.4% of hepatic cysts were cured. No productive biliary fistula was observed. Two patients were operated laparoscpically. The total treatment duration ranged between 1 and 5 years. Parasitologic examination of operated cysts showed that 30% of them were viable even after 3 years of treatment. CONCLUSION: Albendazole has proven a strong efficacy in pulmonary and peritoneal localizations. A complementary surgical treatment is often necessary in hepatic localizations and it is facilitated with previous Albenazole therapy. Combination of ABZ and surgery seems to have encouraging results and must be applied for those patients. The high rate of viable cysts after medical therapy is problematic and must incite to develop new antihelminthic agents.

Congenital bilobar emphysema.

Congenital bilobar emphysema is reported to be extremely rare. We describe 3 cases, and we review the diagnosis problems and treatment methods of this childhood respiratory tract pathologic condition.

Transverse testicular ectopia: a three-case report and review of the literature.

OBJECTIVES: To describe the embryologic, clinical, and therapeutic features of transverse testicular ectopia (TTE) and to review the literature on similar cases. METHODS: Three cases of TTE were discovered accidentally during surgery for inguinal hernia and undescended testes; a persistent Müllerian duct syndrome (PMDS) was associated in 1 case. We also performed a literature search for other reports of TTE. RESULTS: A conservative surgical approach was chosen: transseptal orchiopexy was preferred in 2 cases and the Müllerian remnant was preserved in the first case. CONCLUSIONS: TTE is a rare anomaly that usually presents as a unilateral cryptorchidism and a contralateral descendent testis with an associated hernia. In suspected cases, laparoscopy and ultrasonographic evaluation may be helpful in diagnosing this condition before surgery. Surgery, transseptal orchiopexy, is highly recommended to manage TTE especially when vasa deferentia are fused. In case of PMDS, the authors preferred preserving Müllerian remnants because of the risk of vas deferens and testicular blood supply damage. Recently, laparoscopy is useful for both diagnosing and management of TTE and associated anomalies.