Patterns of spinal cord malformation in cloacal exstrophy.

OBJECTIVE: The objective of this study was to assess the prevalence and spectrum of spinal dysraphism in a cohort of children with cloacal exstrophy (CEX) using MRI. METHODS: Children with CEX presenting between 1999 and 2019 with baseline spinal MRI were included. The images were reviewed in consensus to assess the type of dysraphism. The dysraphisms were initially reviewed and described based on their descriptive anatomy, and then classified according to anomalies of gastrulation, primary neurulation, or secondary neurulation. RESULTS: Thirty-four children were included. Thirty-three of these children had closed spinal dysraphism, and 1 had a normal spine. Of the 33 cases of closed spinal dysraphism, the conus and/or filum terminale were involved in all cases. The most common malformations were spinal lipoma (n = 20) and terminal myelocystocele (n = 11). The lipomas were heterogeneous: 4 dorsal, 9 transitional, 4 chaotic, and 3 terminal. A large subgroup (10/20, 50%) within the lipomas had an unusual morphology of noncontiguous double lipomas, the proximal fat related to the conus and the distal fat within the filum. These were difficult to characterize using existing classifications. In 2 cases, only a thickened filum was noted. The majority of these malformations were compatible with a disorder of secondary neurulation. CONCLUSIONS: Complex spinal dysraphisms are consistently associated with CEX. The unusual dysraphism patterns found in this group of patients highlight the limitations of current embryological classifications. Given the propensity for neurological deterioration in this group of patients, spinal MRI should be routinely performed. The type and distribution of malformations seen have implications for the wider understanding of the pathogenesis and classification of lumbosacral lipomas.

Antenatal biological models in the characterization and research of congenital lower urinary tract disorders.

Congenital lower urinary tract disorders are a family of diseases affecting both urinary storage and voiding as well as upstream kidney function. Current treatments include surgical reconstruction but many children still fail to achieve urethral continence or progress to chronic kidney disease. New therapies can only be achieved through undertaking research studies to enhance our understanding of congenital lower urinary tract disorders. Animal models form a critical component of this research, a corner of the triangle composed of human in-vitro studies and clinical research. We describe the current animal models for two rare congenital bladder disorders, posterior urethral valves (PUV) and bladder exstrophy (BE). We highlight important areas for researchers to consider when deciding which animal model to use to address particular research questions and outline the strengths and weaknesses of current models available for PUV and BE. Finally, we present ideas for refining animal models for PUV and BE in the future to stimulate future researchers and help them formulate their thinking when working in this field.

Dual Pathology Causing Congenital Bladder Outlet Obstruction.

Anterior urethral syringocele is an uncommon congenital deformity characterized by cystic dilatation of bulbourethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroureteronephrosis and renal impairment and found to have urethral syringocele and posterior urethral valves.

Contractile function of detrusor smooth muscle from children with posterior urethral valves - The role of fibrosis.

INTRODUCTION: Posterior urethral valves (PUV) is the most common cause of congenital bladder outflow obstruction with persistent lower urinary tract and renal morbidities. There is a spectrum of functional bladder disorders ranging from hypertonia to bladder underactivity, but the aetiology of these clinical conditions remains unclear. AIMS AND OBJECTIVES: We tested the hypothesis that replacement of detrusor muscle with non-muscle cells and excessive deposition of connective tissue is an important factor in bladder dysfunction with PUV. We used isolated detrusor samples from children with PUV and undergoing primary or secondary procedures in comparison to age-matched data from children with functionally normal bladders. In vitro contractile properties, as well as passive stiffness, were measured and matched to histological assessment of muscle and connective tissue. We examined if a major pathway for fibrosis was altered in PUV tissue samples. METHODS: Isometric contractions were measured in vitro in response to either stimulation of motor nerves to detrusor or exposure to cholinergic and purinergic receptor agonists. Passive mechanical stiffness was measured by rapid stretching of the tissue and recording changes to muscle tension. Histology measured the relative amounts of detrusor muscle and connective tissue. Multiplex quantitative immunofluorescence labelling using five epitope markers was designed to determine cellular pathways, in particular the Wnt-signalling pathway, responsible for any changes to excessive deposition of connective tissue. RESULTS AND DISCUSSION: PUV tissue showed equally reduced contractile function to efferent nerve stimulation or exposure to contractile agonists. Passive muscle stiffness was increased in PUV tissue samples. The smooth muscle:connective tissue ratio was also diminished and mirrored the reduction of contractile function and the increase of passive stiffness. Immunofluorescence labelling showed in PUV samples increased expression of the matrix metalloproteinase, MMP-7; as well as cyclin-D1 expression suggesting cellular remodelling. However, elements of a fibrosis pathway associated with Wnt-signalling were either reduced (ß-catenin) or unchanged (c-Myc). The accumulation of extracellular matrix, containing collagen, will contribute to the reduced contractile performance of the bladder wall. It will also increase tissue stiffness that in vivo would lead to reduced filling compliance. CONCLUSIONS: Replacement of smooth muscle with fibrosis is a major contributory factor in contractile dysfunction in the hypertonic PUV bladder. This suggests that a potential strategy to restore normal contractile and filling properties is development of the effective use of antifibrotic agents.

Outcomes of urinary tract abnormalities diagnosed by the routine third trimester scan.

OBJECTIVE: The aim of this study is to determine the incidence of congenital abnormalities of the kidneys and urinary tract (CAKUT) detected for the first time in an unselected population undergoing a routine third trimester scan between 30-34 week's gestation. METHODS: This was a retrospective analysis of 8562 routine third trimester ultrasound scans during which the fetal anatomy was evaluated, and, any structural abnormalities detected, recorded onto a fetal database which was subsequently analysed for CAKUT. All postnatal records of antenatally diagnosed CAKUT were obtained and analysed for diagnosis and management. RESULTS: There were 26 cases of urological abnormalities detected for the first time in the third trimester. The most frequent abnormality was unilateral renal pelvis dilatation (73%). Postnatal ultrasound confirmed abnormalities in 19 (73%) newborns, with two (8%) resolving antenatally and four (15%) postnatally. The overall incidence of new CAKUT detected by the third trimester scan was 0.22% (19/8562) with a male to female ratio of 1:1.6. Four patients required surgery, two received cystoscopic injection of Deflux with circumcision, one received cystoscopic valve ablation and one patient received a staged hypospadias repair. CONCLUSION: Routine third trimester scanning is already performed in many countries with proposed benefits primarily directed towards the monitoring of fetal growth and late pregnancy malpresentation. For healthcare systems that still utilize two routine scans, debate is ongoing as to the value of introducing a routine third trimester scan. The ability to detect additional and potentially missed CAKUT is a further benefit, which in isolation is likely of too small an impact to merit implementation. However, the combination of fetal structural assessment, growth velocity monitoring and fetal presentation evaluation presents a strong case for inclusion in an antenatal screening program. The findings of this study highlight the importance of a detailed fetal structural evaluation at each antenatal ultrasound scan.

The value of the routine third trimester ultrasound scan in antenatal care: Problems with guidance and outdated data in a highly technological field.

Ultrasound scanning is a cornerstone of modern antenatal care, enabling the detection of fetal abnormalities such as congenital disease, chromosomal defects and growth-disorders as well as maternal diseases such as pre-eclampsia. As technology and techniques evolve, care paradigms and clinical guidance must be re-evaluated with current literature so as to provide expectant parents with the highest quality of care. We present here the current state of the literature, the conflict between guidance and research endeavours and present suggestions for future study.

Meeting the challenges of reconstructive urology - Where are we now?

This is based on the 2018 Storz Urology Lecture at the BAPS Conference and is a personal review of three reconstructive paediatric urological conditions: hypospadias, congenital adrenal hyperplasia, and bladder exstrophy from the perspective of changing expectations and outcomes. LEVEL OF EVIDENCE: V (Expert Opinion).

Isolated bilateral simplex ureteric ectopia: Bladder capacity as an indicator of continence outcome.

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.

Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature.

Cloacal exstrophy is the most complex congenital, ventral, abdominal wall defect. Traditionally surgery consists of a staged approach to repair which takes place on many separate theatre visits. In this case a primary approach was undertaken resulting in a relatively short inpatient stay and a reduced risk from multiple surgical procedures under general anaesthesia.

5 years after an ACE: what happens then?

PURPOSE: Antegrade continence enema (ACE) revolutionised the lives of children with chronic constipation and soiling. Parents often ask how long the ACE will be required. We looked at our patients 5 years after ACE formation to answer the question. METHODS: We reviewed clinical notes of all patients undergoing ACE procedure during January 1990 to December 2010. Only patients with >5 years follow-up were included. Data are given as median (range). RESULTS: 133 patients were included with >5 years of follow-up. Primary pathology was anorectal anomaly (ARA) 64 (48%); spinal dysraphism (SD) 40 (30%); functional constipation (FC) 14 (10%); Hirschsprung's Disease (HD) 10 (8%) and others 5 (4%). Median follow-up was 7 years (5-17 years). Overall 74% still use their ACE; whilst 26% no longer access their stoma, of whom 47% recovered normal colonic function. 50% of HD patient recover colonic function. FC has the highest failure rate at 21%. CONCLUSIONS: Overall 86% achieved excellent clinical outcome with 74% of patient still using their ACE at 5 years. HD has the highest recovery rate of 50%. FC has a more unreliable clinical outcome with 21% recovered colonic function and 21% failed. Outcome varied dependent on the background diagnosis.

Urological management.

The pediatric urologists role is confined to ischio-, para-, and pygopagus conjoined twins. The aim is to preserve renal function, to address problems with urinary continence, and to optimize genital issues with particular reference to sexual and reproductive function. Full urological imaging is essential prior to separation for planning and for the operation itself.

A Case of Embryonal Rhabdomyosarcoma Presenting as a Lobulated Protrusion From the Urethral Meatus at Birth.

This is the first reported case of rhabdomyosarcoma presenting as a mass protruding from the urethral meatus present at birth. A male neonate was transferred to a tertiary pediatric urology center on day 4 of life where the mass was surgically excised. Histology confirmed an embryonal rhabdomyosarcoma and chemotherapy commenced. The patient completed chemotherapy at the age of 8 months. The child is now 3.5 years old and well with no recurrence of disease.

What is the risk of urinary tract infection in children with antenatally presenting dilating vesico-ureteric reflux?

INTRODUCTION: 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. STUDY DESIGN: All patients <16 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. RESULTS: Of 308 patients with primary VUR aged <16 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 (p < 0.05). CONCLUSIONS: 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.

Spiral rotational flap for the creation of a new umbilicus in bladder exstrophy.

OBJECTIVE: A range of surgical techniques have been described to create a new umbilicus in children with bladder exstrophy. We present a detailed video demonstrating our technique for the creation of a new umbilicus. METHOD: The position of the planned umbilicus and flap were marked on the abdomen. Incisions were made using monopolar diathermy. The flap was raised and excess fat thinned. Subcutaneous tissues were apposed, and the flap rotated and sutured in spiral fashion with interrupted 6/0 monocryl forming a cone which was subsequently inverted. RESULTS: Between May 1999 and August 2014, we used this technique for the creation of a new umbilicus in 47 bladder exstrophy patients (31 boys and 16 girls). No complications occurred. All were followed up as part of our bladder exstrophy programme. CONCLUSION: The technique allows reproducible excellent cosmetic results. Aesthetic results are durable and it should be considered as an alternative to existing reported techniques.

Functional properties and connective tissue content of pediatric human detrusor muscle.

The functional properties of human pediatric detrusor smooth muscle are poorly described, in contrast to those of adult tissue. Characterization is necessary for more informed management options of bladder dysfunction in children. We therefore compared the histological, contractile, intracellular Ca2+ concentration responses and biomechanical properties of detrusor biopsy samples from pediatric (3-48 mo) and adults (40-60 yr) patients who had functionally normal bladders and were undergoing open surgery. The smooth muscle fraction of biopsies was isolated to measure proportions of smooth muscle and connective tissue (van Gieson stain); in muscle strips, isometric tension to contractile agonists or electrical field stimulation and their passive biomechanical properties; in isolated myocytes, intracellular Ca2+ concentration responses to agonists. Pediatric detrusor tissue compared with adult tissue showed several differences: a smaller smooth muscle-to-connective tissue ratio, similar contractures to carbachol or α,ß-methylene ATP when corrected for smooth muscle content, and similar intracellular Ca2+ transients to carbachol, α,ß-methylene ATP, raised K+ concentration or caffeine, but smaller nerve-mediated contractions and greater passive stiffness with slower stress relaxation. In particular, there were significant atropine-resistant nerve-mediated contractions in pediatric samples. Detrusor smooth muscle from functionally normal pediatric human bladders is less contractile than that from adult bladders and exhibits greater passive stiffness. Reduced bladder contractile function is not due to reduced smooth muscle contractility but to greater connective tissue deposition and to functional denervation. Significant atropine resistance in pediatric detrusor, unlike in adult tissue, demonstrates a different profile of functional neurotransmitter activation. These data have implications for the management of pediatric bladder function by therapeutic approaches.

Testicular outcome following laparoscopic second stage Fowler-Stephens orchidopexy.

OBJECTIVE: To assess outcome after laparoscopic second-stage Fowler-Stephens orchidopexy (L2(nd)FSO). PATIENTS AND METHODS: Retrospective review of 94 children (aged 0.75-16 years, median 2.75 years), who underwent L2(nd)FSO for 113 intra-abdominal testes between January 2000 and May 2009: 75 unilateral, 19 bilateral (11 synchronous; 8 metachronous). Follow-up (range 3 months-10.9 years, median 2.1 years) was available for 88 children (102 testes: 71 unilateral, 31 bilateral). RESULTS: Testicular atrophy occurred in 9 out of 102 (8.8%), including 8 out of 71 (11.3%) unilateral and 1 out of 31 (3.2%) bilateral intra-abdominal testes (multivariate analysis: p = 0.59). Testicular ascent ensued in 9 out of 102 (8.8%), comprising four (5.6%) unilateral and five (16.1%) bilateral testicles (multivariate analysis: p = 0.11). Of the 18 bilateral testes brought to the scrotum synchronously none atrophied and four (22.2%) ascended, compared to one (7.7%) atrophy and one (7.7%) ascent among the 13 testes brought to the scrotum on separate occasions (Fisher exact test: p = 0.42 and p = 0.37, respectively). Mobilization of the testis through the conjoint tendon tended towards less ascent (multivariate analysis p = 0.08) but similar atrophy (p = 0.56) compared to mobilization through the deep-ring/inguinal canal. Logistical regression analysis identified no other patient or surgical factors influencing outcome. CONCLUSIONS: This is the largest series of L2(nd)FSO to date. A successful outcome is recorded in 85 out of 102 (83.3%) testicles. Atrophy occurred in 8.8% and ascent in 8.8%.

Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey.

AIM: To present the outcome of an online survey of the current practice in feminizing surgery for congenital adrenal hyperplasia (CAH) among the specialists attending the IVth World Congress of the International Society of Hypospadias and Disorders of the Sex Development (ISHID), 2011. MATERIAL AND METHODS: An online survey covered 13 individual questions regarding the management and surgical techniques for 46XX CAH patients. All delegates attending the conference were invited to complete this anonymous survey. The data was analysed by three of the authors. RESULTS: A total of 162 delegates had registered for the conference and 60% of them were paediatric surgeons or paediatric urologists. 65 delegates completed the online survey. Early surgery, before the age of two years, is preferred by 78% of the surgeons and most of them would include clitoroplasty, vaginoplasty and labioplasty. The most frequent surgical technique used for the clitoroplasty is the partial excision of the corpora cavernosa and the skin flap or "U flap" vaginoplasty. Routine vaginal dilatations after puberty are advocated by 28% of the delegates. More than 75% report good outcomes. CONCLUSIONS: Within the limitations of the methodology of this survey, this study suggests that there is agreement in many aspects related with the surgical treatment for 46XX CAH. Self reported outcomes are satisfactory for most of the respondents.