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.

Laparoscopic assisted dismembered pyeloplasty versus open pyeloplasty in UPJO with poorly function kidney in pediatrics.

BACKGROUND: The management of UPJO with poor function kidney, less than 10%, has been the subject of debate for more than a decade. Some authors have recommended nephrectomy, while others favor renal salvage (pyeloplasty). We report our experience with laparoscopic assisted pyeloplasty in pediatric patients with poorly functioning kidneys in comparison with an open approach. MATERIALS AND METHODS: A retrospective study was conducted to review 65 patients who were diagnosed with hydronephrosis and had impaired renal function due to UPJO. The study was conducted in the pediatric surgery departments of Al-Azhar University Hospital and Fattouma Bourguiba University Hospital of Monastir over a period of 20 years. Limited to pediatric patients with UPJO with ≥ Grade III hydronephrosis, antero-posterior pelvic diameter ≥ 20 mm, as well as a renal function equal to or less than 10%, was corrected by laparoscopic assisted or open pyeloplasty. RESULTS: There were 40 cases in group A who underwent laparoscopic assisted pyeloplasty, and 25 cases in group B who underwent open pyeloplasty. There were no complications or difficulties during the operation. The mean operative time in group A was 90 ± 12 min, while in group B, it was 120 ± 11 min. The renal assessment parameters significantly improved in both groups. In group A, the mean split renal function was 7.9 ± 1.3% and increased to 22.2 ± 6.3%. In group B, the mean split renal function was 8.1 ± 1.1% and increased to 24.2 ± 5.1%. However, the differences between both groups in terms of pre-operative and post-operative renal functions were statistically insignificant. CONCLUSION: Laparoscopic assisted pyeloplasty is an effective treatment for patients with poorly functioning kidneys, especially those with less than 10% function. While this surgical procedure requires shorter operative times, it yields functional outcomes that are comparable to open 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.

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.

Metanephric stromal tumor: An unusual presentation of a rare paediatric renal neoplasm.

A 2-year-old boy with prenatal diagnosis of a malformation uropathy was referred to paediatric surgery department. On systemic examination, there were no palpable masses. An ultrasonography of abdomen with color Doppler, a renal artery angiographic and scintigraphy revealed a preostial aneurysm at the left renal artery. The patient had a left nephrectomy. Grossly, the specimen measured 75 mm × mm 50 × 20 mm with renal artery aneurysm measuring 30 mm × 35 mm. On cut section, the renal parenchyma contained a whitish tumor that measured 35 mm × 10 mm. Histopathologically, this tumor was diagnosed as metanephric stromal tumor.

Anterior Urethral Valve: Uncommon Association with Renal Duplicity.

Anterior urethral valves (AUVs) is an unusual cause of congenital obstruction of the male urethra, being 15-30 times less common than posterior urethral valves. We present a case of AUV diagnosed at 24th gestational week. Ultrasonography and fetal MRI revealed hydronephrotic kidneys with ureteral duplicity, a distended bladder and perineal cystic mass which confirmed dilated anterior urethra in a male fetus. Diagnosis was confirmed postnatally by voiding cystourethrogram and surgery.

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.

Burns injury in children: is antibiotic prophylaxis recommended?

BACKGROUND: Wound infection is the most frequent complication in burn patients. There is a lack of guidelines on the use of systemic antibiotics in children to prevent this complication. PATIENTS AND METHODS: A prospective study is carried out on 80 patients to evaluate the role of antibiotic prophylaxis in the control of infections. RESULTS: The mean age was 34 months (9 months to 8 years). There was a male predominance with sex ratio of 1.66. The mean burn surface size burn was 26.5% with total burn surface area ranging from 5% to 33%, respectively. According to American Burn Association 37% (30/80) were severe burns with second and third degree burns >10% of the total surface body area in children aged <10 years old. Scalds represented 76.2% (61/80) of the burns. Burns by hot oil were 11 cases (13.7%), while 8 cases (10%) were flame burns. The random distribution of the groups was as follow: Group A (amoxicilline + clavulanic acid) = 25 cases, Group B (oxacilline) = 20 cases and Group C (no antibiotics) = 35 cases. Total infection rate was 20% (16/80), distributed as follow: 8 cases (50%) in Group C, 5 cases (31.2%) in Group A and 3 cases in Group B (18.7%). Infection rate in each individual group was: 22.9% (8 cases/35) in Group C, 20% (5 cases/25) in Group A and 15% (3 cases/20) in Group B (P = 0.7). They were distributed as follow: Septicaemia 12 cases/16 (75%), wound infection 4 cases/16 (25%). Bacteria isolated were with a decreasing order: Staphylococcus aureus (36.3%), Pseudomonas (27.2%), Escherichia coli (18.1%), Klebsiella (9%) and Enterobacteria (9%). There is a tendency to a delayed cicatrisation (P = 0.07) in case of hot oil burns (65.18 ± 120 days) than by flame (54.33 ± 19.8 days) than by hot water (29.55 ± 26.2 days). Otherwise no toxic shock syndrome was recorded in this study. CONCLUSION: It is concluded that adequate and careful nursing of burn wounds seems to be sufficient to prevent complications and to obtain cicatrisation. Antibiotics are indicated only to treat confirmed infections.

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.

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.

Video-assisted surgery in the management of hydatid renal cyst in children.

Renal hydatid disease is rare in children. Open surgery is the traditional method of treatment, but minimally invasive techniques are being increasingly used. Herein, we report our experience with laparoscopic management of renal hydatid cyst in four children via a transperitoneal approach in three cases and a retroperitoneoscopy in one. We conclude that transperitoneal laparoscopy can be offered for the management of hydatid renal cyst associated with other intraperitoneal localizations, whereas the retroperitoneoscopy is limited for the treatment of isolated hydatid renal cysts.