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Context Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective We aimed to better understand the presentation and prevalence of pediatric DSD. Methods A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.

Conservative surgery (CS) brachytherapy (BT) techniques for local therapy in bladder-prostate rhabdomyosarcoma (BP-RMS) seek to retain organ function. We report bladder function after high-dose rate (HDR) BT combined with targeted CS for any vesical component of BP-RMS.Prospective cohort of all BP-RMS patients between 2014 and 2019 receiving HDR-BT (iridium-192, 27.5 Gy in five fractions) with/without percutaneous endoscopic polypectomy (PEP) or partial cystectomy (PC). Functional assessment included frequency-volume chart, voided volumes, post-void residual, flow studies, continence status and ultrasound scanning; abnormalities triggered video urodynamics.Thirteen patients (10 male), aged 9 months to 4 years (median 23 months), presented with localised fusion-negative embryonal BP-RMS measuring 23-140 mm (median 43 mm) in cranio-caudal extent. After induction chemotherapy, local treatment consisted of PC+BT in three, PEP+BT in four and BT alone in six. At a median 3.5 years (range 21 months to 7 years) follow-up, all were alive without relapse. At a median age of 6 years (4-9 years), the median bladder capacity was 86% (47%-144%) of that expected for age, including 75% (74%-114%) after PC. Radiation dose to the bladder was associated with urinary urgency, but not bladder capacity or nocturnal enuresis. Complications occurred in two: one urethral stricture and one vesical decompensation in a patient with pre-existing high-grade vesico-ureteric reflux (VUR). The remaining patients were dry by day; five with anticholinergic medication for urinary urgency. Three patients are enuretic.Day-time dryness at a median 3.5 years after CS-HDR-BT was achieved in 92%, with 85% voiding urethrally, and 62% attaining day-and-night continence aged 4-9 years. We report reduced open surgery with minimally invasive percutaneous surgery, with HDR-BT or BT alone being suitable for many.

Infants (12 months) with rhabdomyosarcoma have historically had poorer outcome than the older age groups. We present outcomes for infants and young children aged 12-36 months with localised rhabdomyosarcoma with a particular emphasis on infants.All children less than 36 months of age enrolled on the EpSSG RMS 2005 study for localised disease are included. Treatment comprised chemotherapy, local surgery and/or radiation therapy adapted to risk group and age. Main outcome measures were event free survival (EFS) and overall survival (OS).Outcome data were available for 485/490 patients aged less than 36 months, 110 were infants. Infants received chemotherapy according to the risk group with no toxic deaths. Radiotherapy was delivered to 33.6% of infants and 63.5% of 12-36 months old, with respectively 41.7% and 22.2% receiving brachytherapy. Radical surgery was performed in 62% of infants and 57.1% of 12-36 months old. Median follow up for patients who are alive (n = 393) was 72.7 months (range 6.9-158.2). Five-year OS for infants was 88.4% (95%CI 80.3-93.2), which is significantly better than the OS in 12-36 months old patients of 78.0% (95%CI 73.2-82.0; p = 0.0204). Five-year EFS for infants was 72.5% (95%CI 62.8-80.0) compared with 66.1% (95%CI 61.0-70.7; p = 0.2663) for 12-36 months old.Infants treated on RMS 2005 achieved excellent EFS and OS. The EpSSG RMS 2005 chemotherapy regimen, combined with an increase in the application of adequate local therapy, improvements in imaging and supportive care and potentially favourable patients' characteristics may have contributed to these results.

Procedure Congenital rhabdomyosarcoma (RMS) represents a challenging disease due to its characteristics and the difficulties in delivering treatment in this immature population. Methods We analyzed treatment and outcome of patients with congenital RMS, defined as tumor diagnosed in the first 2 months of life, enrolled in the European paediatric Soft tissue sarcoma Study Group protocols. Results Twenty-four patients with congenital RMS were registered. All, except one patient (PAX3-FOXO1-positive metastatic RMS), had favorable histology and localized disease. Three patients had VGLL2-CITED2/NCOA2 fusion. Complete tumor resection was achieved in 10 patients. No radiotherapy was given. Chemotherapy doses were adjusted to age and weight. Only two patients required further dose reduction for toxicity. The 5-year event-free survival (EFS) and overall survival (OS) were 75.0% (95% confidence interval [CI] 52.6-87.9) and 87.3% (95% CI 65.6-95.7), respectively. Progressive disease was the main cause of treatment failure. Conclusion Patients with congenital RMS presented with a favorable disease, allowing weight- and age-adjusted doses of chemotherapy and avoidance of irradiation, without compromising the outcome.

The usefulness of acoustic shadowing as a feature of pediatric kidney stone ultrasound (US) may be underestimated. The hypothesis was that the majority of stones in children have acoustic shadowing and that its specificity is high (>90%) in pediatric kidney stones. Our retrospective observational study included children who had undergone abdominal non-enhanced computed tomography (CT) for kidney stones in a pediatric renal stone referral centre between 2015 and 2016. US examinations prior to CT were retrospectively assessed for US features such as acoustic shadowing, twinkle artifact and stone size. These features were compared to CT as reference standard. Thirty-one patients (median age: 13 years, range: 1–17 years) with 77 suspected kidney stones were included. The median stone size was 5 mm (interquartile range [IQR]: 5 mm). For acoustic shadowing, sensitivity was 70% (95% confidence interval [CI] 56–80%) and specificity was 100% (95% CI 56–100%). All kidney stones with a diameter ≥9 mm demonstrated shadowing. Sensitivity for twinkle artifact was 88% (95% CI 72–96%), but specificity for twinkle artifact could not be calculated due to the lack of true negatives. All false-positive stones on US demonstrated twinkle artifact, but none showed shadowing. Acoustic shadowing was demonstrated in the majority of pediatric kidney stones. Specificity was high, but this was not significant. Twinkle artifact is a sensitive US tool for detecting (pediatric) kidney calculi, but with a risk of false-positive findings.

Background To explore the association between patent urachus and bladder outflow obstruction (BOO). A retrospective review of patient records over a 35-year period (1983–2018) with complete patent urachus was performed. Antenatal ultrasound findings were noted, and postnatal investigations included ultrasound (US), micturating cystourethrogram (MCUG), functional nuclear medicine scans (MAG3, DTPA, and DMSA), and serum creatinine. Associated anomalies and management in all patients were analyzed. Results Sixty-six patients with all types of urachal remnants were identified of whom only 16 had a patent urachus. All presented clinically with a discharging umbilicus, 10/16 confirmed on MCUG and 4 had umbilical cord cysts on antenatal US. Twenty-five percent had associated bladder outlet obstruction (BOO): etiologies included atresia of posterior urethra, congenital urethral hypoplasia, urethral atresia with prune belly syndrome, and sacrococcygeal teratoma. Vesicoureteral reflux (VUR) was confirmed in 37%, and four of them had bladder outlet obstruction (BOO). Conclusion With patent urachus, bladder outflow obstruction occurs in the minority. Based on our findings, we commend US and cystogram to document VUR. The isolated PU should be treated nonoperatively up to a year of age. Renal function should be checked with the finding of VUR. The etiopathogenesis of the condition remains uncertain.

Introduction: Super mini-percutaneous nephrolithotomy (PCNL) (SMP) has been described to be used for stones up to 2.5 cm in size, but is especially practical for stones unsuitable for extracorporea...

BACKGROUND Paratesticular rhabdomyosarcoma (PT RMS) is rare compared to benign scrotal pathology. Inappropriate first surgery (InFS) required supplementary treatment to maintain excellent outcomes. Initial staging of regional lymph nodes is important. The aim of this study was to determine to what extent the quality of locoregional approach impacted on patient morbidity and survival. DESIGN/METHODS Analysis was performed on all nonmetastatic PT RMS patients enrolled in the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS 2005 protocol. Aspects assessed were adherence to surgical guidelines and impact of protocol violations, relapse analysis, and survival outcomes. RESULTS Analysis was performed on 237 patients, with median follow up of 67.1 months. Median age was 9.0 years. InFS occurred in 75 of 237 (32%) patients. InFS required intensified chemotherapy (10) and local therapy. After InFS, 61 required primary reexcision and five delayed surgery. Of 26 recurrences, the risk of relapse was higher in patients ≥10 years (21/26) and was mainly locoregional in 16 of 26 recurrences (± metastatic). Sixteen of 26 died with 14 of 16 patients ≥10 years. Nodal relapse neither occurred when N1 nodes were identified at diagnosis, nor after surgical staging. Five-year overall survival (OS) at age

The International Soft-Tissue Sarcoma Consortium (INSTRuCT) was founded as an international collaboration between different pediatric soft-tissue sarcoma cooperative groups (Children's Oncology Group, European Pediatric Soft-Tissue Sarcoma Group, and Cooperative Weichteilsarkom Studiengruppe). Besides other tasks, a major goal of INSTRuCT is to develop consensus expert opinions for best clinical treatment. This consensus paper for patients with rhabdomyosarcoma of the female genital tract (FGU-RMS) provides treatment recommendations for local treatment, long-term follow-up, and fertility preservation. Therefore, a review of the current literature was combined with recommendations of the treatment protocols of the appropriate clinical trials. Additionally, opinions of international FGU-RMS experts were incorporated into recommendations. Results were that the prognosis of FGU-RMS is favorable with an excellent response to chemotherapy. Initial complete surgical resection is not indicated, but diagnosis should be established properly. In patients with tumors localized at the vagina or cervix demonstrating incomplete response after induction chemotherapy, local radiotherapy (brachytherapy) should be carried out. In patients with persistent tumors at the corpus uteri, hysterectomy should be performed. Fertility preservation should be considered in all patients. In conclusion, for the first time, an international consensus for the treatment of FGU-RMS patients could be achieved, which will help to harmonize the treatment of these patients in different study groups.

A childhood tumor—from the beginning Many adult cancers arise from clonal expansions of mutant cells in normal tissue. These premalignant expansions are defined by somatic mutations shared by the cancers. Whether pediatric cancers originate in a similar way is unknown. Coorens et al. studied Wilms tumor, a childhood kidney cancer. Phylogenetic analyses revealed large clones of mutant cells in histologically and functionally normal kidney tissue long before tumor development. Thus, like adult tumors, Wilms tumor appears to arise from a premalignant tissue bed. Science , this issue p. 1247

In children, removal of a post-procedural JJ stent requires a further cystoscopy under general anaesthetic. We describe securing the distal end of the ureteric stent to the tip of a balloon catheter at the end of the primary procedure. Once post-operative oedema has subsided, the stent is removed seamlessly in tandem with the balloon catheter. This can be done on the ward by nursing staff without the need for general anaesthesia or sedation. Our experience in the first 10 successive patients (aged 1.6-16.3 years) demonstrates this technique to be safe, easy to learn and well tolerated.

The vas deferens and spermatic vessels entering the inguinal canal through the internal inguinal ring is thought to exclude an intra-abdominal testis. We present a case of high bilateral intra-abdominal testes on a 46,XY boy despite the vas deferens and good-sized vessels passing through the deep rings.Data were collected from clinical records, radiology (ultrasound, magnetic resonance imaging [MRI]), and endocrine blood tests.This case underlines the importance of following the pathway of embryological descent of the testis cranially as well as caudally during diagnostic laparoscopy, to avoid missing this rare anatomical variant.

The understanding of the aetiopathogenesis and the long-term outcomes of correctional repair of congenital megaprepuce (CMP) remains unestablished. Different techniques have been described; however, optimum results have been difficult to achieve.The aim of our study was to review our experience of the 'anatomical approach' to the correction of CMP.This is a retrospective review of boys who underwent CMP repair between 2003 and 2014. All of them had the anatomical approach: A curved incision is made between the scrotal and penile skin. Circumferential dissection superficial to Buck's fascia frees the penis and allows the scrotum to assume a more caudal position. The dissection distally lifts the preputial sac that is opened ventrally. The redundant inner preputial skin is excised. After full degloving, the dorsal flap of skin is thinned. The base of the flap is anchored, and the rectangle of skin is wrapped around the shaft. The remaining diamond-shaped incision is closed in a vertical line. Postoperatively, foam dressings and urethral catheter are left in place. Symptomatology, hospital stay, postoperative complications, redosurgery, voiding and cosmesis were evaluated.Sixty-one patients had surgery at 5-151 months (median 17 months). Median hospital stay was 24 h (12-168 h). Foam dressings and urethral catheter were used in 47 boys and removed in outpatient clinic after 3-7 days. There were two immediate postoperative complications requiring surgery. One due to severe oedema and constriction ring, and the other had wound infection with wound breakdown, both in patients with no dressings (P 0.05). Follow-up was available for 58 patients, with a median of 22 months (3-79 months). Two required redosurgery (3.5%), one with poor cosmetic result and one recurrence. In all patients, a normal circumcised appearance had been achieved and in 47, cosmetic result was excellent (81%). Five patients have residual suprapubic fat, and four, excess ventral skin. One with residual suprapubic fat has reached puberty and it has resolved. All declared good stream. The same technique was used for six patients with poor cosmetic result after surgery elsewhere. The outcome is excellent for all, with median follow-up of 20.5 months (5-31 months).The 'anatomical' repair provides the ability to create the appearance of a standard circumcision, which is generally accepted as normality. Apart from the penis itself, this technique facilitates correction of the penoscrotal transposition, giving the external genitalia the best appearance. It seems to provide good functional and cosmetic outcomes, and it holds true at mid- to long-term follow-up. Dressings and catheter can potentially prevent postoperative complications. However, a prospective study with standardised parameters is required to confirm these findings.

Objective To assess the frequency and severity of cardiac dysrhythmias and identify any intraoperative or postoperative complications in children undergoing extracorporeal shock wave lithotripsy (ESWL). Methods All children coming to our institution for ESWL from June 2014 to January 2015 were prospectively enrolled in an observational cohort study. Intraoperative cardiac dysrhythmias and perioperative and postoperative complications were recorded. Results In total, 21 children aged 1-18 years were enrolled receiving a total of 26 treatments. Intravenous sedation was used in 19 cases and general anesthesia with an inhalational agent in 7 cases. Cardiac dysrhythmias occurred in 58% of children. No hemodynamic instability was noted. No therapies were terminated because of dysrhythmias, and there were no postoperative cardiac dysrhythmias. Conclusion ESWL remains a safe therapy for children with urinary stone disease. Although we experienced more dysrhythmias than currently published literature, there were no long-term adverse outcomes and children were able to go home the same day.

Background Paediatric urolithiasis is uncommon and severe complications, such as urinary tract infections and renal parenchymal scarring, occur in a minority of children with urinary calculi. The goals of management are to prevent additional renal damage, to expedite the passage of stones, and prevent new stone formation. The standard work-up for paediatric calculi includes ultrasonography followed by an abdominal x-ray. However complex calculi (for example staghorn calculi with extensive ramification in the renal collecting system) present a special diagnostic and therapeutic challenge. Methods At Great Ormond Street Hospital for Children a new imaging approach has been proposed in children presenting with complex renal calculi. This involves a Tc-99m-DMSA scan with planar and tomographic images for assessment of renal parenchymal function, followed by a low dose unenhanced CT KUB. The DMSA tomographic images are co-registered to the CT images. Results This technique enables assessment of the function of the renal parenchyma adjacent to the renal stones. It has thus been possible to manage the calculi taking parenchymal function into account. For example, in the case of a horseshoe kidney in which one of the two moieties contained numerous stones, the DMSA scan showed very poor parenchymal function of that moiety: it was therefore decided to surgically resect the moiety instead of extracting the stones individually with percutaneous nephro-lithotomy (PCNL). Conversely, in a duplex kidney with stones in the lower moiety, the DMSA scan showed good parenchymal function of the lower moiety; as a result, this was not resected and the stones were extracted with PCNL. The radiation dose from this approach was no higher than the standard imaging protocol. Conclusion Preliminary results of this imaging approach in a selected patients’ population of more than 30 children with complex paediatric renal stones are encouraging and warrant further evaluation.

In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful. Therefore, the identification of the kidney at risk of losing function in an asymptomatic patient is a major research goal. In the context of renovascular hypertension a DMSA scan can be useful before and after revascularisation procedures (angioplasty or surgery) to assess for gain in kidney function. Renal calculi are increasingly frequent in children. Whilst the vast majority of patients with renal stones do not need functional imaging, DMSA scans with SPECT and a low dose limited CT can be very helpful in the case of complex renal calculi. Congenital renal anomalies such as duplex kidneys, horseshoe kidneys, crossed-fused kidneys and multi-cystic dysplastic kidneys greatly benefit from functional imaging to identify regional parenchymal function, thus directing further management. Positron emission tomography (PET) is being actively tested in genito-urinary malignancies. Encouraging initial reports suggest that F-18-fluorodeoxyglucose (FDG) PET is more sensitive than CT in the assessment of lymph nodal metastases in patients with genito-urinary sarcomas; an increased sensitivity in comparison to isotope bone scans for skeletal metastatic disease has also been reported. Further evaluation is necessary, especially with the promising advent of PET/MRI scanners. Nuclear Medicine in paediatric nephro-urology has stood the test of time and is opening up to new exciting developments.

Undescended testis is the most frequent congenital genitourinary anomaly, affecting 1–2 % of boys [1]. About 20 % of them will have an impalpable testicle (IPT) [1, 2], situated intra-abdominally in nearly half. In the remainder, the testis may be absent, may have atrophied, or may be hidden in the inguinal canal or fat [2, 3]. For patients with IPT, laparoscopy is the gold standard for diagnosis, and it allows the surgical treatment to be performed in the same setting [4]. The laparoscopic surgical options for the intra-abdominal testis include single-stage orchidopexy, single-stage Fowler-Stephens procedure (FSP), and two-stage FSP. Intra-abdominal testes with sufficient vessel length may be mobilised into the scrotum in one procedure, but the gonadal vessels are too short in the vast majority of patients. In 1959, Fowler and Stephens [5] described division of the testicular vasculature to aid mobilisation, thereby leaving the testes to rely on collateral blood supply along the vas deferens. Twenty-five years later, Ransley et al. [6] advised a two-stage procedure with an interval between vessel ligation and testicular mobilisation to allow time for enhancement of the collateral blood supply along the vas deferens. Laparoscopy for division of the vessels was introduced 20 years ago, and more recently, it has been used for mobilisation during the second stage [7–9]. The FSP has been demonstrated to be an effective and safe technique with reported success rates consistently above 80 %; the complications of testicular atrophy and ascent are documented in about 10 % and 5 %, respectively. A systematic review comparing single-stage and two-stage FSP concluded that the staged approach has a higher rate of success, with better testicular viability [10]. This chapter describes the surgical technique of first- and second-stage Fowler-Stephens orchidopexy.

Purpose To assess testicular atrophy and non-scrotal position after laparoscopic second stage Fowler-Stephens orchidopexy. Material and Methods Retrospective case review of all consecutive laparoscopic second stage Fowler-Stephens orchidopexies performed at our institutions between January 2000 and May 2009. Results Eighty-nine children, aged between 14 months and 18 years (median 3 years 8 months), underwent a laparoscopic second stage Fowler-Stephens orchidopexy for 109 intra-abdominal testes (20 bilateral cases, 69 unilateral: right 31, left 38). In 10 of the 20 boys with bilateral intra-abdominal testes, a laparoscopic second stage Fowler-Stephens orchidopexy was performed synchronously; in the other 10 children the second stages took place on separate occasions. Five boys (8 testes) were lost to follow-up. The remaining 84 children (101 testes) were reviewed in outpatient clinic for up to 8 years (median 9 months). Testicular atrophy was identified in 12 of 101 testicles (12%). This included 8 of 66 (12%) unilateral cases and 4 of 35 (11%) bilateral intra-abdominal testes. Testicular ascent was noted in 11 of 101 testicles (11%), which comprised 6 (9%) unilateral and 5 (14%) bilateral cases. Of the 16 bilateral testicles brought to the scrotum during the same procedure 3 (18%) atrophied and 5 (31%) ascended, compared to 1 (5%) atrophy and 1 (5%) ascent amongst the 19 testes brought to the scrotum on separate occasions. These differences were not statistical significant (Fisher's exact test: p = 0.31 and p = 0.07, respectively). Overall, 78 of the 101 (78%) testicles achieved satisfactory outcomes on follow up. Conclusions Our series of laparoscopic second stage Fowler-Stephens orchidopexy is one of the largest studies to date, documenting a successful outcome in 78%. Testicular atrophy occurred in 12% and ascent in 11%. This is vital information when counselling parents.

The incidence of stones in children varies enormously geographically and is approximately 5–20 per 100,000 children aged less than 18 years [1]. A key difference between adult and paediatric stone disease is its recurrent nature. Identifying any underlying metabolic abnormality, reported in 33–93 % in the literature, is therefore essential [2]. Nevertheless, it is important to note that such assessment must not delay the treatment of the stones. At our institution, a metabolic abnormality is found in just under half the children presenting with stones, comprising hypercalciuria (57 %), cystinuria (23 %), hyperoxaluria (17 %) and hyperuricosuria (2 %) [3]. Infection is the second most common aetiology.

Summary Introduction Bladder calculi are a known complication of bladder augmentation. Open cystolithotomy remains the preferred option for treating large or multiple stones. Increasingly, however, minimal access techniques have been used. Reports of Mitrofanoff cystolitholapaxy are rare and have been limited to adults. This study presented a two centre series of children treated by cystolitholapaxy via the Mitrofanoff/Monti channel. Materials and methods With institutional approval the current study retrospectively reviewed and identified 14 patients, on a prospective database, who underwent Mitrofanoff cystolitholapaxy to treat bladder calculi at two independent institutions in the UK and Chile between 2004 and 2016. It looked at patient demographics, surgical technique, stone clearance and recurrence, as well as leak or catheterisation difficulties of the Mitrofanoff/Monti channel post-procedure. Results Fourteen patients underwent Mitrofanoff cystolitholapaxy during the period 2004–2016. One patient was excluded due to lack of follow-up. The remaining 13 patients were aged 5–22 (median 14) years at the time of the procedure. Their underlying diagnoses were four neuropathic bladders, four bladder exstrophy, four cloacal exstrophy and one posterior urethral valve. Patients underwent augmentation cystoplasty at a median age of 5 (range 1–15) years, using ileum in 10 and sigmoid colon in three. The channel for clean intermittent catheterisation was an appendix Mitrofanoff in nine and a Monti channel in four. An Amplatz sheath was placed through the Mitrofanoff to allow safe access to the bladder for treating the stones (see Summary Table). Recurrent stones were treated using the same technique. Stone and channel outcomes were analysed for each procedure. There were 22 procedures in 13 patients; five (38%) patients had recurrent stones. Median time to recurrence was 6 months. There were no immediate complications. Stone clearance was confirmed by ultrasound and abdominal x-ray at 3–6 months after the procedure. Median follow-up was 15 (range 3–53) months. There were no leaks or difficulties catheterising the channel on follow-up. Discussion This was the first series of Mitrofanoff/Monti cystolitholapaxy for the treatment of calculi in augmented bladders of paediatric patients. Previous concerns about damaging the continence mechanism of the conduit appeared to be unwarranted. The use of an Amplatz sheath protected the continence system from repeated instrumentation, and permitted free backflow of irrigation and rapid clearance of stone fragments. Recurrence of stones occurred in 38%, which was in keeping with rates reported in the wider literature. Conclusion Mitrofanoff cystolitholapaxy was safe, and with appropriate care did not result in leakage or difficulty catheterising. Summary Table . Amplatz sheath Number No sheath 4 18 Ch 13 20 Ch 3 26 Ch 1 28 Ch 1 Fragmentation method Number Swiss Lithoclast 12 Grasper 6 Laser 1 No fragmentation (lift-out) 3 Retrieval method Number Grasping forceps 18 2.4 Ch basket 4 Operative details.

Clusters of BCG vaccine-associated suppurative lymphadenitis (BCG-ASLD) have been reported in many countries. We have observed an increase in BCG-ASLD following the change from the percutaneous Evans vaccine to the intradermal BCG Statens Serum Institute (SSI) vaccine.

Background/Purpose: Extracellular matrix proteins are implicated in regulating cell proliferation and differentiation. The authors systematically analysed the expression of elastin; collagen types I, III, IV; laminin; and fibronectin during mouse detrusor muscle development, a period during which downregulation of detrusor proliferation and increasing smooth muscle differentiation is known to occur. Methods: Embryonic days 14 (E14) and 18 (E18), and postnatal day 1 (D1) and week 6 (6wk) were examined, a period spanning the inception of the bladder to postnatal maturity. Immunohistochemistry of whole bladders was used to immunolocalise protein expression, and Western blot of dissected detrusor layers was used to semiquantify soluble protein expression. Results: All proteins were detected at all 4 stages. Statistically significant increases were documented for elastin (E14 to 6wk), collagen type I (E18 to 6wk), collagen type III (D1 to 6wk) and laminin (E14 to 6wk). Fibronectin levels were relatively high up to D1, after which levels declined significantly. Collagen type IV levels decreased significantly (E18 to 6wk). Conclusions: The authors postulate that changing levels of laminin and fibronectin have opposing effects on the transition from proliferating primitive mesenchymal cells to differentiated detrusor muscle. Furthermore, changes in collagen type III and elastin may be important for bladder compliance. J Pediatr Surg 38:1-12. Copyright 2003, Elsevier Science (USA). All rights reserved.

Purpose: We systematically analyzed detrusor muscle differentiation in normal mice with a focus on cell turnover (proliferation and apoptosis) as well as on expression of the muscle specific proteins α-smooth muscle actin and desmin.Materials and Methods: The stages examined were embryonic days 14 and 18, and postnatal day 1 and week 6, representing a period spanning organ inception to postnatal maturity. α-Smooth muscle actin, desmin and proliferating cell nuclear antigen were assessed by immunohistochemical testing of whole bladders and Western blot analysis of dissected detrusor layers. Apoptosis was detected in tissue sections by end-labeling.Results: α-Smooth muscle actin was expressed by the detrusor layer throughout maturation with levels significantly increasing from embryonic days 14 to 18 and cytoplasmic staining gaining in uniformity postnatally. Desmin expression in the detrusor was insignificant at embryonic day 14 but increased progressively thereafter. Proliferating cell nuclear antigen exp...

Introduction Isolated bilateral simplex ectopic ureters (BSEUs) are rare but pose a therapeutic challenge: ureteric reimplantation alone does not accomplish continence in all. Identifying the patients needing additional procedures for continence early could prevent multiple operations. Objective Potential preoperative indicators for postoperative continence are explored in eight BSEU girls without cloacal, anorectal, or spinal anomalies. Study design With institutional approval, all patients with BSEU between 1985 and 2012 were retrospectively reviewed. Cystoscopy determined the site of ureteric ectopia (6 of 16 at the bladder neck [BN], 5 of 16 below the BN, and 5 of 16 in the distal urethra). Bladders were assessed by a combination of ultrasound, urodynamics, micturating cystourethrogram, cystoscopic, and intraoperative observations. Expected bladder capacity for age (EBCA) was calculated by 30 ml + (30 ml × age in years) or 38 ml + (2.5 ml × age in months) for children greater or less than 2 years, respectively. Continence outcomes were appraised at a minimum of 4 years. The small number of patients precludes credible statistical analysis and therefore raw data are presented. Results Patients underwent cross-trigonal ureteric reimplantation at 1–5.5 years, in five without BN surgery and in three with a Young–Dees–Leadbetter BN tightening. Of those without BN surgery at reimplantation, four achieved satisfactory continence for their age, but one has had multiple procedures culminating in BN closure, ileocystoplasty, and Mitrofanoff. Among the BN-tightening group, one was in nappies at 4 years, one had residual stress incontinence after two further BN injections, and one proceeded to artificial urinary sphincter after two BN injections. Five patients had significant renal impairment. Discussion Patients with satisfactory continence after reimplantation alone and those needing further procedures tended to differ in their preoperative observations of bladder capacity and apparent BN competence. This study suggests preoperative observations of an empty bladder on serial ultrasound and/or a wide-open BN with small or even moderate bladder capacity at cystoscopy to indicate the need for BN surgery. In contrast, children with bladder filling to at least 30% of expected bladder capacity for age on preoperative ultrasound or apposition of the BN at cystoscopy may achieve satisfactory continence after ureteric reimplantation alone. Bladder capacity as an indicator of BN competence can also be correlated to continence outcomes in previously published series. Polyuria associated with renal impairment can exacerbate the challenge for continence. Conclusion Preoperative bladder capacity appears to be an indicator of inherent BN function and a thorough assessment of the urinary tract by cystoscopy, ultrasound, micturating cystourethrogram, and functional imaging may guide the surgeon on the need for BN surgery at the time of ureteric reimplantation. Where continence remains elusive, patients should be counselled that a further BN injection is occasionally of value although more significant BN procedures are required for most. Table. Continence outcomes for individual patients at their last FU. Cystoscopic observations regarding bladder size/BN competence and observed bladder volumes prior to cross-trigonal ureteric reimplantation with or without BN tightening. Continence outcome Patient Age at FU Pre-ureteric reimplantation cystoscopic finding bladder filling on US Postoperative bladder function assessment After ureteric reimplantation alone Continent 1 4 y Not recorded 21 ml at 7 mo (36% EBCA) 100 ml at 4 y (67% EBCA) 2 6 y Good capacity 14 ml at 3 mo (30% EBCA) 281 ml at 6 y (130% EBCA) 4 11 y Not recorded 71 ml at 2.5 y (68% EBCA) 450 ml at 11 y (125% EBCA) Enuretic 5 8 y BN apposition 230 ml at 5 y (125% EBCA) Capacity maintained Proceeding to BNC cystoplasty 8 20 y Small capacity BN wide open Not recorded 220 ml at 14 y (50% EBCA) after colposuspension Reimplantation with BN tightening In nappies 3 4 y Moderate size BN wide open 14 ml at 12 mo (20% EBCA) 47 ml at 2.5 y (50% EBCA) Proceeding to BNI 6 20 y Moderate size BN wide open Not recorded Urodynamics: at 8 y 100% EBCA and at 20 y stress leak Proceeding to AUS 7 16 y Small capacity Empty on serial US at 5 y 188 ml at 12 y (50% EBCA) after BNI The EBCA is calculated for children aged below 2 years (38 ml + 2.5 ml × age in months) and those above 2 years (30 ml + 30 ml × age in years). Bladder filling is expressed as a percentage of EBCA (measured volume/EBCA × 100). AUS = artificial urinary sphincter; BN = bladder neck; BNC = bladder neck closure; BNI = bladder neck injection; EBCA = expected bladder capacity for age; FU = follow-up; mo = months; US = ultrasound; y = years. Full-size table Table options View in workspace Download as CSV

Objective To document the incidence of neoplasia in a cohort of 103 patients born with classical exstrophy. Patients and methods The notes of patients born before 1964 with exstrophy were reviewed retrospectively. The patients were divided into two groups; 42 were thought to be at high risk of developing neoplasia because they had (at some time) had mixing of urine and faeces in a colorectal reservoir, whereas 61 had never been exposed to such a mixture and were thought to have a low risk of neoplasia. Results At a minimum of 35 years of follow-up, complete data were available for 61 patients; 42 were lost to follow-up, of whom 14 were at high risk and 28 at low risk of neoplasia. In the high-risk group, there were three with colonic carcinoma (two of whom presented before 1980 and died), one with carcinoma in situ of the colon, 10 with benign colonic neoplasms and three with bladder cancer (two of whom died). In the low-risk group, there was one patient with bladder cancer (who died) and one with a clear cell carcinoma of the kidney. Three of the four patients with bladder cancer had undergone cystectomy before 5 years of age. Assuming that all the lost patients are alive and free of neoplasia, the risk of neoplasia in adults born with exstrophy is 17.5%. The main risk is in those who have been exposed to mixing of urine and faeces in a colorectal reservoir (38%). Even in low-risk patients the risk of malignant neoplasia is 3.3% at a median (range) age of 42 (40–44) years, which is 27 times higher than that of the age-matched general population. Conclusions Annual colonoscopy of patients deemed at high risk of colorectal neoplasia appears to be an effective screen for colorectal carcinoma, by identifying a premalignant stage, as there were no deaths after this was introduced. Despite bladder closure or diversion surgery within the first few years of life, patients with exstrophy have an almost 700-fold greater incidence of carcinoma of the bladder than the age-matched general population. Early cystectomy is not protective.

We describe a novel approach to neonatal bladder exstrophy closure that challenges the role of postoperative immobilization and pelvic osteotomy.We reviewed the primary management of bladder exstrophy at our institutions between 2007 and 2011. In particular we compared postoperative management in the surgical ward using epidural analgesia to muscle paralysis and ventilation in the intensive care unit. Clinical outcome measures were time to full feed, length of stay, postoperative complications and redo closure. Cost-effectiveness was also evaluated using hospital financial data. Data are expressed as median (range). Significance was explored by Fisher exact test and unpaired t-test.A total of 74 patients underwent primary closure without osteotomy. Successful closure was achieved in 70 patients (95%). A total of 48 cases (65%) were managed on the ward (group A) and 26 (35%) were transferred to the intensive care unit (group B). The 2 groups were homogeneous for gestational age (median 39 weeks, range 27 to 41) and age at closure (3 days, 1 to 152). Complications requiring surgical treatment were noted in 4 patients (8.3%) in group A and 3 (11.5%) in group B (p = 0.609). Length of stay was significantly shorter for the group managed on the ward (11 vs 18 days, p0.0001). Median costs were $42,732 for patients admitted to the intensive care unit and $16,214 for those admitted directly to the surgical ward (p0.0001).Primary closure of bladder exstrophy without lower limb immobilization and osteotomy is feasible. Postoperative care on the surgical ward using epidural analgesia results in shorter hospitalization.

Objective In this video we will demonstrate endo-ureterotomy using a cutting balloon for vesico-ureteric junction (VUJ) dilatation and stenting of the primary obstructive megaureter. Method For the technique, a 0.014 inch guide-wire is endoscopically inserted through the VUJ and allowed to curl in the megaureter. A 3 mm atherotome-bladed cutting balloon is inflated with iohexol contrast solution. Under fluoroscopy or cystoscopically, the stenotic VUJ segment is observed to open and post-dilated with a 4 mm simple balloon before JJ stent placement for six weeks. Results This video demonstrates the equipment and technique of VUJ endo-ureterotomy using a cutting balloon and stenting of the primary obstructive megaureter. Conclusion Where intervention for the primary obstructive megaureter is indicated, we propose VUJ endo-ureterotomy as the first line treatment.

Objective Dextranomer-hyaluronic acid (Deflux®), the most widely used compound in the endoscopic treatment of vesico-ureteric reflux (VUR) today, is believed to provoke only minimal inflammation. Reports of calcification of Deflux® are increasing. We ascertain the incidence of Deflux® calcification appearing as distal ureteric calculi on ultrasound. Methods Three cases (2 external patients) of ureteroscopy for calcified submucosal Deflux® prompted a retrospective review of the notes and imaging of all children treated with Deflux® for VUR between December 2000 and January 2011 at Great Ormond Street Hospital. Results 232 children (M:F = 5:3) received Deflux® for VUR at median age 2 years (range 2 months–12 years). Follow-up annual ultrasound, performed in all, identified calcification in 2. The interval between Deflux® injection and presentation of its calcification was 4 years. 104 of the 232 children had been followed up for 4–10 years. Considering the observed lag-period, after 4 years the incidence of calcification of Deflux® on ultrasound was 2% (2/104). Conclusions Patients should be warned that calcification of Deflux® can occur. Misinterpretation as ureteric stones is common and may lead to unnecessary ureteroscopy. In this series, the incidence of calcification of Deflux® on ultrasound after 4 years was 2%.

Design All fetuses diagnosed with ‘absent stomach’ at anomaly screening over an 8-year period were identified using the University College Hospital fetal medicine database. These were cross-referenced with records from the paediatric surgical unit at Great Ormond Street Hospital and pathology department at University College Hospital to ascertain postnatal or postmortem diagnosis and outcome in each case. Results Of the 84 cases identified, eight were found to have normal stomachs on subsequent antenatal scans, while 76 had persistent non-visualisation of the stomach. Underlying diagnoses included 24 gastro-intestinal tract and/or respiratory anomalies, 22 aneuploidies, six neuromuscular syndromes, three central nervous system anomalies, seven renal anomalies and five genetic syndromes. Seven cases had no identifiable postnatal abnormalities, 26 pregnancies were terminated and nine fetuses died in utero. Of the 33 live births, eight died in the neonatal period and three died in infancy. Only 28 survived into childhood. Two patients were lost to follow up. Conclusions Persistent non-visualisation of the fetal stomach in the antenatal period was associated with a wide range of underlying diagnoses. In many cases, prognosis was poor. Only 37% of pregnancies resulted in liveborn infants surviving more than 6 months. The incidence of an abnormal karyotype was 29%. Diagnosis and outcome was normal in only 9.2% of cases. We propose an algorithm for the management of persistent non-visualisation of the fetal stomach on antenatal ultrasound.

The incidence of recurrent urinary tract infection (UTI) in children with primary vesico-ureteric reflux (VUR) presenting symptomatically is well documented. The risk of UTI in asymptomatic primary VUR diagnosed on investigation of antenatal hydronephrosis (ANH) is less clear. Paradoxically, several previous studies have suggested a lower risk (1-25%). We ascertain the incidence of UTI amongst antenatally-presenting primary VUR and explore risk factors.All patients16 years managed for primary VUR between 1997 and 2013 were retrospectively reviewed. Patients were identified by searching 'VUR, vesicoureteric reflux' and 'vesico' in the clinical database. Sex, follow up, antibiotic prophylaxis, age at UTI, grade of VUR, radioisotope imaging findings (CRN-congenital reflux nephropathy, NRD-new renal defects), evidence of bladder dysfunction, surgical intervention and resolution were recorded. UTI diagnosis was based on positive urine culture with symptoms including fever. SPSS statistical package and Pearson's Chi-squared test were used to explore significance.Of 308 patients with primary VUR aged16 years treated, 242 were diagnosed following presentation with UTI. The remaining 66 (21%) were initially asymptomatic, and VUR was diagnosed on investigation of ANH. All were given prophylaxis from birth. Six months to 16years (median 6years) follow-up was available for 54 (42 males, 12 females). All but two patients had grade III-V VUR (96%), bilaterally in 41 (76%). CRN was evident in 30 (56%; all male) and bladder dysfunction in 12 (22%; 10 males). Twenty-eight patients (52%) developed a UTI. The risk of UTI was 58% in girls, 33% in boys without CRN and 57% in boys with CRN (p = 0.17). Bladder dysfunction was a significant risk factor for UTI (p = 0.03). All 8 (15%; 7 males) with NRD had had a UTI. A single UTI appeared responsible for the majority of NRD (6/8; 75%). UTI occurred in 6/27 (22%) boys after circumcision compared to 17/25 (68%) prior/without circumcision (p0.05).The incidence of UTI in VUR detected after presentation with ANH was 52%. CRN and bladder dysfunction were risk factors for developing a UTI. Circumcision appears to significantly reduce the risk of infection. Antenatal presentation of primary VUR does not carry a reduced risk of UTI. A single UTI, in half before the age of six months, seemed responsible for the majority of NRD. In boys, the highest risk of UTI is in the first few months of infancy, despite antibiotic prophylaxis, and other interventions, particularly circumcision, should therefore be considered as early as possible.

We report a case of a 7-year-old boy with a voluminous 8.5-cm “cobra-head” calculus in a duplex system ureterocele causing flank pain, hematuria, and infection. Combined cysto-ureteroscopy and percutaneous cystolithotomy enables dependent ureterocele incision along its inferolateral border and efficient stone clearance in a single minimally invasive procedure. Protracted and repeated urethral instrumentation is avoided.

The bladder is unique. It is the most distensible organ in the body. If the normal pattern of development is disturbed, the bladder can become dysfunctional and poorly compliant. Renal outcome is intimately linked to bladder function and hence bladder development. In this review we describe our current knowledge of the molecular processes that govern bladder development, with particular emphasis on the role of the extracellular matrix. Finally, we suggest a hypothetical model for bladder development.

Aims To assess the relevance of the newly discovered gene DHDPSL underlying primary hyperoxaluria type 3 (PH3) in a UK paediatric stone centre. Background Children with renal calculi undergo a metabolic evaluation and those with persistent hyperoxaluria (approximately 15% of stone formers) have either a secondary cause for this or are screened for genetic defects in oxalate metabolism (PH) Until recently, two types were known: PH1 is due to defective production, localisation or function of AGT and PH2 to defective production of GRHPR. Recently, a third type of PH3 was described in which patients have mutations in DHDPSL, the gene encoding 4-hydroxy-2-oxoglutarate aldolase, catalyzing the final step in the metabolic pathway of hydroxyproline.1 Methods We screened all children with atypical PH for mutations in DHDPSL. Atypical PH was defined as persistent hyperoxaluria and no identifiable mutation in AGT and GRHPR and/or normal enzyme activity in a liver biopsy. Results Four children with atypical PH were identified. All were found to carry bi-allelic DHDPSL mutations. Clinical, biochemical and genotype results are shown in the table 1. Conclusions These results demonstrate PH3 as a cause of renal calculi in children. Besides identifying the cause, the demonstration of a genetic basis has implications for recurrent stone formation and for family counselling. The age of presentation varies from 5 months to 12 years, in keeping with the heterogeneity seen in other disorders of nephrolithiasis. However, in this small series, the degree of hyperoxaluria was moderate reinforcing the need for a thorough metabolic and if necessary genetic evaluation of all children with renal stones.

We report the death of a 17-year-old male exstrophy patient from adenocarcinoma arising at the ureterosigmoidostomy. This was detected at reconstructive surgery at the age of 16 years, 13 years after ureterosigmoidostomy. This case highlights the importance of including children in endoscopic surveillance. We recommend annual sigmoid-colonoscopy commencing 10 years after ureterosigmoidostomy irrespective of age.