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BACKGROUND: Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure. Classically, progressive familial intrahepatic cholestasis is classified into three subtypes: 1, 2, and 3 and results from a defect in a biliary protein responsible for bile formation and circulation in the liver. In the last decade and with the increased use of genetic testing, more types have been known. CASE PRESENTATION: A 6-month-old Afrocentric boy presented with progressive jaundice and pruritus that started since the age of 2 months. He was thoroughly investigated to be finally diagnosed as progressive familial intrahepatic cholestasis type 4. A low-fat diet, ursodeoxycholic acid, fat-soluble vitamins, and cholestyramine were started. He showed initial improvement then had refractory pruritus and impaired quality of life. He underwent surgical biliary diversion at the age of 1 year with marked improvement of manifestations. CONCLUSION: Owing to the increased technology of genetic testing, more clinical subtypes of progressive familial intrahepatic cholestasis were diagnosed other than the classical three types. Surgical management using biliary diversion could be beneficial and delays or may even obviate the need for liver transplantation.

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INTRODUCTION: The management of intra-abdominal testis (IAT) represents a significant clinical challenge, necessitating the transposition of the testis from the abdominal cavity to the scrotum. This procedure is rendered complex by the abbreviated length of the testicular vessels. OBJECTIVE: Our purpose in this study was to conduct a systematic review and meta-analysis comparing Shehata technique (ST) versus Fowler Stephens technique (FST) in treating patients with IAT. STUDY DESIGN: We conducted a comprehensive literature search using several databases, including Ovid Medline, Cochrane, PubMed, Google Scholar, Web of Sciences, EMBASE, and SCOPUS until February 2024. This study included research that compared ST and FST for managing intra-abdominal testis. We evaluated the rates of atrophy and retraction, as well as the overall success rates, for both techniques. RESULTS: Six studies were identified as appropriate for meta-analysis, comparing orchidopexy performed using the ST with 169 patients, against the FST involving 162 patients. The comparison showed no statistically significant age difference at the time of surgery between the groups (I2 = 0%) (WMD 0.05, 95% CI - 1.24 to 1.34; p = 0.94). Operative time in first the stage was lower in the FST group than ST group (I2 = 95%) (WMD 10.90, 95% CI 1.94 to 19.87; p = 0.02). Operative time in the second stage was lower in the ST group than FST group (I2 = 83%) (WMD - 6.15, 95% CI - 12.21 to -0.10; p = 0.05). Our analysis showed that ST had a similar atrophy rate (I2 = 0%) (OR: 0.45, 95% CI: 0.20 to 1.01; p = 0.05). No difference was found between techniques in terms of retraction rate (I2 = 0%) (OR: 0.64, 95% CI: 0.17 to 2.47; p = 0.52). The ST demonstrated a notably higher overall success rate compared to FST (I2 = 1%) (RR: 1.14, 95% CI: 1.03 to 1.27; p = 0.009). Overall success rate in ST and FST were 87% and 74%, respectively. Overall atrophy rate in ST and FST were 5% and 12%, respectively. Overall retraction rate in ST and FST were 5% and 10%, respectively. DISCUSSION: The ST, renowned for its pioneering two-stage laparoscopic approach that leverages mechanical traction to lengthen the testicular vessels, is gaining popularity due to its recognized safety and efficacy. Conversely, the Fowler-Stephens technique, a traditional method that relies on collateral blood supply for testicular mobilization, has come under examination for its potential link to an increased risk of testicular atrophy. CONCLUSION: This meta-analysis reveals that the Shehata technique has similar or better outcomes compared to the Fowler-Stephens technique in IAT management. Further prospective multicentric randomized controlled trials are warranted.

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OBJECTIVES: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt. METHODS: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's Hospital (AUCH), Alexandria, Egypt, between 2018 and 2023. All patients included in the study underwent a detailed clinical and laboratory evaluation, ultrasonography (and laparoscopy if needed). RESULTS: The study included 30 children with syndromic XY DSD; most of these children were diagnosed at birth. The most common extragenital malformations included skeletal anomalies (70%), facial dysmorphism (46.7%), cerebral malformations (30%) and congenital heart disease (23.3%). Ventricular septal defect was the most common congenital heart disease. CONCLUSION: Integration between clinical, laboratory and genetic data is the cornerstone in the management of XY DSD patients for appropriate decision making of surgical intervention and sex assignment, in addition to screening for other associated features of each mutation.

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OBJECTIVE: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt. METHODS: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's hospital (AUCH), Alexandria, Egypt, during the period between 2018 and 2023. All patients included in the study underwent a detailed clinical and laboratory evaluation, ultrasonography (and laparoscopy if needed); and decision making was done accordingly. RESULTS: The study included 30 children with syndromic XY DSD; most of these children were diagnosed at birth. The most common extragenital malformations included skeletal anomalies (70%), facial dysmorphism (46.7%), cerebral malformations and congenital heart disease (23.3%). Ventricular septal defect was the most common congenital heart disease. CONCLUSION: Integration between clinical, laboratory and genetic data is the cornerstone in the management of XY DSD patients for appropriate decision making of surgical intervention and sex assignment, in addition to screening for other associated features of each mutation.

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BACKGROUND: This study aimed the evaluation of the value of the calculated volume of a normal testis to predict the status of its contralateral impalpable side and hence decide the importance of laparoscopic exploration. METHODS: Patients with unilateral impalpable undescended testis - as confirmed by clinical and sonographic examination- were enrolled in our prospective interventional study between November 2018 and August 2022 at Elshatby University Hospital, Faculty of Medicine, Alexandria University. The volume and three-dimensional diameter of the normal contralateral testis were measured by the pre-operative US using the formula: Volume = L x W x H x π/6, where L is the length, W is the width, H is the height, and was correlated with the intra-operative laparoscopic findings. RESULTS: Seventy-six patients were included in our study. The age of the studied patients ranged between 6 months and 4 years with a mean of 2.17 ± 1.30 years; most of them were between one and three years old. Forty-six patients (60.5%) have left-sided impalpable testis and 30 patients (39.5%) have right-sided impalpable testis. The calculated volume of the contralateral normal testis was significantly larger in those patients who had both blind ending vas and vessels (0.89 ± 0.16) and in those who had an atrophic testis passing through the deep inguinal ring (DIR) -which was excised through the inguinal region- (0.83 ± 0.20) than in those patients who had their testes intra-abdominal (0.53 ± 0.18) or passing through the DIR to the inguinal region (0.80 ± 0.19). (Kruskal Wallis test; p < 0.001*). CONCLUSIONS: The calculated sonographic volume of a normal testis can predict the status of its contralateral impalpable side significantly with sensitivity & specificity of 75.0% & 88.89% respectively and a cut-off point of ≤ 0.674; hence, helps in parent counselling preoperatively. TRIAL REGISTRATION: Name of the registry: Clinicaltrials.gov PRS. TRIAL REGISTRATION NUMBER: NCT05933811. Date of registration: 10-7-2023 (retrospectively registered). URL of trial registry record: https://clinicaltrials.gov .

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BACKGROUND: Accessory splenic tissue is a commonly encountered phenomenon in medical literature. Typically, these accessory spleens are found in close proximity to the main spleen, either in the hilum or within the surrounding ligaments. Nevertheless, it is noteworthy that they can also be located in unusual sites such as the jejunum wall, mesentery, pelvis, and, exceptionally rarely, the scrotum. The first documented case of accessory splenic tissue in the scrotum was reported by Sneath in 1913 and is associated with a rare congenital anomaly called splenogonadal fusion. This report describes an infant who presented with a scrotal mass noted by his mother and after examination, investigations, and surgical exploration, it was revealed to be splenogonadal fusion. CASE DESCRIPTION: An 8-month-old Caucasian male patient presented with a mass in the left testicle and bluish discoloration of the scrotum, which had been incidentally noticed in the previous 2 months. The general physical examination was unremarkable. Other than a palpable scrotal mass that was related to the upper pole of the testis, the rest of examination was unremarkable. Imaging revealed that this mass originated from the tail of the epididymis without infiltrating the testis and tumor markers were normal. On inguinal exploration, a reddish brown 2 × 2 cm mass was found attached to the upper pole and was completely excised without causing any harm to the testis, vessels, or epididymis. Histopathological evaluation confirmed the presence of intratesticular ectopic splenic tissue. CONCLUSION: Although uncommon, splenogonadal fusion can be included in the differential diagnosis of a testicular swelling. Accurate diagnosis allows for appropriate treatment planning which helps to avoid unnecessary radical orchiectomy, which can have a significant impact on the patient's reproductive and psychological wellbeing.

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Background and objectives: Proximal hypospadias is considered the most severe subtype of the hypospadias spectrum and represents approximately one-fifth of the total cases. It is well-evidenced by many studies that the rate of postoperative complications following the repair of this complex subtype is significantly higher when compared to the distal variants. Few reports described the proximal hypospadias from the other perspective which is the preoperative one. Most pediatric surgeons notice an unexplained incidence of lower urinary tract infection and occasional difficulty of urinary catheterization in those children. This sometimes requires the use of additional measures such as the use of urethral sounds, filiforms and followers, and even catheterization under anesthesia. The aim of the work is to evaluate the role of preoperative cystourethroscopy in detecting associated anomalies in cases of proximal and severe hypospadias. Materials and methods: This prospective study was conducted in the pediatric surgery unit at Alexandria Faculty of Medicine between July 2020 and December 2021 and included all children with severe grades of hypospadias. After thorough evaluation, all children underwent cystourethroscopy just before the procedure. Any abnormalities in the urethra, urinary bladder, or ureteric openings were recorded if present. Finally, the definitive operation was performed as per schedule. Results: Fifty-two patients (41 fresh and 11 redo patients) with a median (range) age at presentation of 5 (1-16) years were enrolled in this study. The intraoperative cystourethroscopy was done in all of the patients. Significant abnormal findings were recorded in 32 patients (61.5%), while the other 20 patients (38.5%) were revealed to be normal. The most common abnormal findings were dilated prostatic utricle opening and hypertrophied verumontanum (in 23 and 16 cases, respectively). Conclusion: Although most of the associated anomalies with proximal hypospadias are asymptomatic, cystourethroscopy is better used owing to a high incidence of these anomalies. This can facilitate an early diagnosis as well as early detection and intervention at the time of repair.

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INTRODUCTION: Rectal atresia is a rare subtype of anorectal malformations in which the patients are born with a normal anal canal but have complete atresia located few centimeters proximal to the dentate line. We present the transanal end-to-end rectoanal anastomosis as a surgical technique for the management of these patients, highlight the outcomes, and emphasize on some clinical tips. METHODS: Four patients were diagnosed as having rectal atresia on clinical and radiological basis. All of them underwent single loop low sigmoid colostomy in the first 24 h. After 6 months, transanal end-to-end rectoanal anastomosis was performed followed by closure of the stoma 3 months later. RESULTS: The 2 cases that are older than 3 years demonstrated normal continence and are clean between bowel movements, while the other two showed good anal tone and passing stools between 1-3 times daily, being dry in between. CONCLUSION: Transanal recto-anal anastomosis allows a safer route of anatomical reconstruction of the anorectum, therefore avoiding the potential complications associated with the other more invasive approaches.

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Background and objective: Although complex atresias, such as apple-peel and multiple atresias, comprise a smaller percentage, they are usually associated with a higher incidence of postoperative complications and mortality rate. Contrary to simple atresias where the surgical technique of choice usually entails bowel resection and anastomosis with or without enteroplasty, managing apple-peel atresia remains more sophisticated. Decompressive and functionalizing stomas are sometimes mandatory to overcome problems such as increased wall thickness and the wide disparity among the anastomotic ends. Few reports discussed using tube enterostomy in the management of apple-peel atresia; nonetheless, no previous prospective studies were conducted to discuss its efficacy on a larger population. In this study, we are describing our experience using this technique on 12 patients suffering from apple-peel atresia in our center. Methods: A prospective study was conducted from June 2015 to May 2020, where all children who were found to have apple-peel atresia were included in the study. T-tube was placed through an enterotomy through the dilated proximal bowel, around 10 cm before the anastomotic line, and was kept in place using a double suture (Stamm technique) before closing the anterior face of the anastomosis. The short distal limb of the T-tube was oriented toward the anastomotic line, while the long proximal limb was directed proximally. After finishing the anastomosis, the T-tube was delivered outside the abdominal wall, anchoring the enterostomy along with the proximal dilated jejunum against the anterior abdominal wall. Results: A total of 12 cases were encountered throughout the period of study. The mean age at operation was 4 days and the mean birth weight was 2700 g. The mean time for starting oral feeding postoperatively and T-tube removal was 8 and 10.5 days, respectively. Cases were discharged after a mean of 22 days. As regards morbidity and mortality, a single case developed skin excoriations at the site of tube insertion and was managed conservatively using topical ointments and another case died from overwhelming sepsis 3 days after the operation. Conclusion: T-tube enteroplasty is a safe and feasible option in the surgical management of apple-peel atresia. The main strength of our study is its prospective nature and that it includes apple-peel atresia cases only. However, the main limitation is that a larger sample is needed.

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Scrotoschisis, also known as extracorporeal testicular ectopia, is an exceedingly rare congenital abnormality that affects the wall of the scrotum. In this condition, the testis exteriorizes through an opening in the anterior scrotal wall. The exact etiology for scrotoschisis is still unknown; however, many theories arose to explain its occurrence. Herein, we report 19th case in the literature in a 2-day-old boy who presented with an eviscerated right testis. We highlighted the possible etiologic hypotheses and management considerations as well.

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Prostatic utricle cysts result from incomplete regression of the Müllerian duct remnant or decreased androgenic stimulation of the urogenital sinus. Children usually present with urinary tract infections (UTIs), irritative symptoms and urine retention, although some cases are asymptomatic. These cysts sometimes can cause a palpable abdominal mass, urethral discharge, terminal hematuria and recurrent epididymitis. A high incidence of such cysts is seen in boys with hypospadias, especially the more proximal types.

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Background and objective: In spite of being one of the most common surgical procedures performed in adults, laparoscopic cholecystectomy (LC) is relatively uncommon in the pediatric age group. Most surgeons prefer to dissect the cystic duct using a monopolar electrosurgical hook and occlude it with simple metal clips. Although the safety of using the ultrasonically-activated shears, e.g., harmonic scalpel for dissection of the gallbladder is confirmed in many studies, its efficacy in the closure of the cystic artery and duct in adults is still debatable. Furthermore, very few reports studied its safety in children during LC. The aim of our work is to study the safety and efficacy of ultrasonic shears in controlling the cystic duct and artery during LC in children. Materials and methods: A prospective study was conducted from May 2017 to April 2020, where all children having symptomatic gallbladder stone disease were included in the study. HS was used as a sole instrument in gallbladder dissection as well as in controlling cystic duct and artery. No metal clips or sutures were used throughout the procedure. Results: A total of forty-two children having symptomatic gallstone disease were included in the study. The main indication for LC was hemolytic anemia. Their age ranged from 3 to 13 years with a mean of 8.4 ± 3.25 years. All operations were completed laparoscopically, i.e., no conversion to open surgery was needed. The mean operative time was 40 ± 10.42 min. There were no intraoperative complications apart from gall bladder perforation in two cases during dissection from the liver bed while the postoperative recovery was smooth in all patients. Patients started oral feeding after 11.30 ± 3.01 h. The mean time for discharge was 25.47 ± 7.49 h, ranging from 14 to 48 h. Postoperative ultrasound for all cases showed no evidence of minor or major bile leaks or CBD injuries. Conclusion: This is the first report to evaluate the use of HS as a sole instrument during LC in the pediatric age group. HS is a safe and efficient instrument that can be used alone in gallbladder dissection as well as in controlling cystic duct and artery during LC in children.

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Background and Objective: The optimal treatment protocol of intraabdominal testis is still a matter of debate and until now there are a lot of areas of controversy as regards this challenging subtype. The aim of this report is to document current practice patterns among surgeons from different continents through an online Redcap survey supervised the World Federation of the Association of Pediatric Surgeons (WOFAPS). Methods: A 16-question-survey related to the management of intraabdominal testis was created and administered via RedCap. The WOFAPS headquarters sent an email to all members inviting voluntary survey participation. Data were entered using Microsoft EXCEL spreadsheet and analyzed. Descriptive statistics were performed for each survey item. Results: There were 436 WOFAPS members who participated in this study with a response rate of 29%, and the vast majority were pediatric surgeons. Only 13% tried to use hormone therapy aiming to induce testicular descent or to improve future fertility. The choices of various surgical techniques were noted. During laparoscopy, if vessels and cord structure were seen entering the ipsilateral internal inguinal ring, most respondents chose to explore the groin. On the other hand, should there was an absent or atrophic testis, the respondents were split on whether to perform a contralateral orchiopexy. Conclusion: This survey describes the current practices of a sample of pediatric surgeons and urologists in the management of intraabdominal testis. The use of hormonal treatment, timing of fixation and management in case of passing through vas and vessels through DIR were undisputable. However, management of low-lying and peeing testis together with the management of contralateral testis were still debatable.

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Introduction: Concealed penis, which is the congenital type of buried penis, is a condition in which a normal-sized penis is totally or partially hidden by pubic, scrotal, or thigh skin. Several procedures had been described for its correction including phallopexy, that is, fixation of penile Buck's fascia to the sub-dermis. Aim of the work: Our work aims to study the difference in outcome between performing phallopexy at one level and at two levels. Material and methods: Our study included 180 uncircumcised patients who had a concealed penis while having an average length of an outstretched penis. These patients were divided into two groups: the first one was treated with one level of phallopexy at the 3 and 9 o'clock points, while the second group was treated with the same procedure in addition to another level of stitches at the mid-penile level. The follow-up was carried out for one post-operative year regarding penile skin edema, infection, congestion, necrosis, and/or re-retraction. Results: The overall success rate was 96.1% for a normally-looking penis without post-operative re-retraction. Re-retraction developed in two patients (2.2%) of those who had one-level phallopexy and in five patients (5.6%) of those who had two-level phallopexy without statistical significance (FE p = .444). Penile skin edema developed in 76 patients (42.2%) being significantly lower in patients with lower body weight (p = .030*). Conclusion: Phallopexy could be performed safely in the case of the concealed penis with satisfactory results. Two levels of phallopexy did not add any advantage to the post-operative results besides the fact that this may be demanding, time-consuming, and may require higher resources, so we recommend the easier one-level phallopexy in the treatment of such conditions with satisfactory results.

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BACKGROUND: While necrotizing enterocolitis (NEC) is a prevalent condition in preterm neonates admitted to neonatal intensive care unit (NICU), intussusception is exceedingly uncommon and often overlooked. This is due to the fact that they share many clinical characteristics. The initial misdiagnosis of intussusception in preterm neonates (IPN) especially has led to a delay in their management, which increases the risk of developing compromised bowel. Additionally, it is difficult to reach a diagnosis as neonatal intussusception does not have any classical radiological signs even when contrast enema is used. This systematic review is based on the published literature including case reports and case series to review the clinical features of IPN and how to differentiate it from NEC in order to shed the light on this rare disease and how having a high index of suspicion would help practitioners to make an early and accurate diagnosis METHODS: A systematic literature search to report all cases of relevant articles that reported IPN till date. All cases that were born before 37 weeks gestational age, presented within the neonatal period and having well established documentation were included in the study. Any case that did not have these criteria was excluded from our study. RESULTS: Only 52 cases met these criteria during the period from 1963 till date. An average of 10 days had elapsed before the cases were confirmed to have IPN either clinically or intraoperatively. The most frequent manifestations were abdominal distension and bilious gastric residuals, occurring in 85% and 77% of the cases respectively, followed by bloody stools in 43% of cases. However, this triad was present only in approximately one-third of the cases. Only 13 cases were diagnosed as having intussusception preoperatively. About two thirds of the intussusception were located in the ileum. Pathological lead point was present in 7 cases only; 4 of them were due to Meckel's diverticulum. Nine cases only out of the 52 cases with IPN died. CONCLUSION: It is crucial to detect the clues for diagnosis of intussusception because in contrast to NEC, it is unresponsive to conservative management, affects the viability of the bowel and surgery is essential.

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Aim: To assess the severity of persistent pulmonary hypertension (PPH) in congenital diaphragmatic hernia (CDH) neonates solely using oxygenation index (OI). Study Design: A prospective study was carried out from April 2016 to March 2019, where all confirmed CDH neonates were evaluated for the possibility repair through thoracoscopic approach. The severity of PPH was assessed using OI. It is calculated using the equation: mean airway pressure (MAP) × FiO2 × 100 ÷ PaO2. Neonates having OI <5 were considered to have a mild degree of pulmonary hypertension; hence, thoracoscopic repair was offered for them. Results: Thirty-nine CDH cases met the selection criteria; therefore, they underwent thoracoscopic repair. Primary diaphragmatic repair was successfully accomplished thoracoscopically in all neonates without any perioperative complications. Conversion from thoracoscopy to open method occurred in five cases. The causes were due to difficulties encountered during repair and none was due to a pure anesthetic problem or general deterioration during thoracoscopy. Recurrence had occurred in two cases only. Conclusion: OI is a reliable subjective parameter that could be used as an adjuvant to the usually used cardiovascular and pulmonary parameters for thoracoscopic repair decision. With increasing surgical experience, a wider range of neonates may be considered for thoracoscopic CDH repair.

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Congenital lumbar hernias are uncommonly seen in the pediatric age group, with only about 60 cases reported in the literature. It is usually accompanied by a multitude of congenital anomalies involving different organ systems of the body. For instance, it may involve the ribs, spine, muscles, and the kidneys. Herein, we report a case of congenital lumbar hernia in an 8-month-old boy who underwent an operative repair using a mesh with an uneventful outcome.

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Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia worldwide, with an incidence of 1 in 15,000 live births. The most frequently-occurring subtype, 21-hydroxylase deficiency, results in diminished production of aldosterone and cortisol as well as increased androgen secretion. Previous studies have reported a relationship between ovarian cyst formation and adrenal androgen excess; nevertheless, neonatal large ovarian cysts have rarely been reported in newborns with congenital adrenal hyperplasia. Herein, we present the unique case of a neonate with classical 21-hydroxylase deficiency who underwent surgery for a huge unilateral solitary ovarian follicular cyst on the seventh postnatal day. Possible mechanisms by which androgen excess may cause ovarian cyst formation are also discussed.