Objective: The 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with 'mixed gonadal dysgenesis'. Our aim was to establish the clinical and gonadal spectrum, and early surgical management, of patients with chromosomal mosaicism presenting with genital anomalies.Patients and methods: We performed a retrospective review of patients with 45,X/46,XY or 45,X/47,XYY mosaicism presenting with genital ambiguity between 1988 and 2009. At least one gonadal biopsy or gonadectomy specimen was available for each patient. Gonadal histology was re-evaluated by a paediatric pathologist.Results: Of 31 patients with 45,X/46,XY (n=28)or 45,X/47,XYY (n=3) mosaicism and genital anomalies, 19 (61%) were raised male. Histology of 46 gonads was available from patients who had undergone a gonadectomy or gonadal biopsy, at a median age of 9.5 months. 18 gonads were palpable at presentation, including 5 (28%) histologically unremarkable testes, 2 streak gonads, and 1 dysgenetic gonad with distinct areas of testicular and ovarian stroma but no oocytes. All intra-abdominal gonads were found to be dysgenetic testes (of which 2 were noted to have pre-malignant changes) or streaks, apart from 1 histologically unremarkable testis. 15 (48%) patients had other anomalies, most commonly cardiac and renal; 4 (13%) had a Turner phenotype.Conclusion: The anatomy and gonadal histology of 45,X/46,XY and 45,X/47,XYY individuals with genital ambiguity do not conform to a set pattern, and hence management of each patient should be individualized according to detailed anatomical and histological assessment. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

In pediatric oncology patients, hemorrhagic cystitis can be a life-threatening complication of bone marrow transplantation, chemotherapy, and radiation therapy. The treatment of this condition is often challenging and includes intravesical irrigation with aluminum, embolization, endoscopic laser coagulation, hydrostatic pressure, use of hyperbaric oxygen, instillation of formalin, prostaglandins, and oral sodium pentosan polysulfate. Although the efficacy of aluminum irrigation is well documented for the management of hemorrhagic cystitis in adults, there are limited reports describing its use in children. The potential multisystem toxic effects of aluminum are well described and the range and progression of aluminum toxicity can be devastating. We report a case of a 9-year-old girl suffering from acute lymphocytic leukemia with hemorrhagic cystitis. Although the symptoms resolved after intravesical aluminum treatment, she developed significant aluminum toxicity. We have reviewed the literature relating to aluminum toxicity in the pediatric age group and present our recommendations for the effective and safe use of aluminum in this cohort of patients.

Aims To review the management of Wilms' tumour. Methods A search of the literature was performed using the PubMed database (1966 to May 2006) with the search terms ‘Wilms’ and either ‘tumour/tumor’ or ‘cancer’ or ‘carcinoma’. This was augmented by manual searches of publications. Findings The success of clinical trials in Wilms' tumour patients over the past 30 years has led to an overall survival of 85% and the introduction of less aggressive chemotherapeutic regimes for patients. Large randomised controlled trials have been published on the management of Wilms' tumour by various collaborative groups, including the National Wilms' Tumour Study Group (NWTSG) in North America and the Société Internationale d'Oncologie Pédiatrique (SIOP) plus the United Kingdom Children's Cancer Study Group (UKCCSG) in Europe. Conclusions Controversy exists as to the best approach to the management of these children with regard to neoadjuvant chemotherapy. Challenges remain in the identification of histological and molecular risk factors for the stratification of treatment intensity.

Primary intrarenal neuroblastoma is an extremely rare and aggressive tumour of the kidney. We report on a case that mimicked Wilms' tumour. Differentiating primary intrarenal neuroblastoma from Wilms' tumour is important both for management and prognosis.

OBJECTIVE:Dismembered pyeloplasty is the traditional technique in the management of ureterovascular pelvi-ureteric junction obstruction (PUJO) in children. Controversy remains regarding the role of lower pole vessels as the sole aetiology for PUJO. Endopyelotomy and concomitant laparoscopic transposition of lower pole vessels for PUJO has been described in adults. We describe our technique of laparoscopic transposition of lower pole vessels in children with PUJO, leaving the PUJ intact. PATIENTS AND METHODS:Thirteen patients (seven boys and six girls) with a mean age of 10.2 years (range 7-16 years) underwent laparoscopic transposition of lower pole vessels. Surgery was indicated on the basis of intermittent pain and ultrasound/MAG3 appearance of obstruction with or without reduced function. The technique involved laparoscopic transperitoneal mobilization of the lower pole vessels from the region of the PUJ thereby freeing the junction and transposing them superiorly onto the anterior wall of the pelvis. The main outcome measures were relief of pain and improvement in ultrasound appearance or drainage parameters on a postoperative MAG3 renogram performed within 4-6 weeks of surgery. RESULTS:Median operating time was 92 min. All patients were discharged within 36 h of surgery. All patients remain pain free at a median of 6 months (range 3-18 months). Twelve patients showed good drainage on the postoperative MAG3 renogram and improvement in ultrasound appearance. One patient had recurrent symptoms requiring insertion of a JJ stent. She has undergone further laparoscopic exploration. The vessels were in their transposed position and there was a kink at the PUJ which was released. She had a vertical pyelotomy and transverse closure over the JJ stent with good results. CONCLUSION:This technique is simple and requires less operating time. No anastomosis or temporary JJ stent is required. Our early results are very encouraging with no serious complications.

Purpose: Posttreatment genitourinary embryonal rhabdomyosarcoma often shows well differentiated rhabdomyoblasts, which are detectable on routine histological staining. Definite areas of residual undifferentiated rhabdomyosarcoma indicate residual/recurrent disease. However, the recent use of immunohistochemical staining with desmin and myogenin in resected specimens and surveillance biopsies following adjuvant therapy may demonstrate scant positive staining cells that appear undifferentiated on light microscopy. To our knowledge the clinical significance of this finding is currently unknown. Therefore, we reviewed our retrospective experience with genitourinary embryonal rhabdomyosarcoma to examine the relationship between immunostain positive undifferentiated cells and subsequent clinical outcome.Materials and Methods: A total of 14 children with a median age of 2.75 years (range 8 months to 7 years) with genitourinary embryonal rhabdomyosarcoma were identified in the histopathology database. All had biopsy confirmation of the diagnosis, followed by multi-agent chemotherapy. Two children in whom there was obvious residual active tumor at the resection margins were excluded from further analysis. Histopathological findings in all patients on the resection/posttreatment biopsy were reviewed. All specimens were immunostained with desmin and myogenin to detect residual undifferentiated rhabdomyoblasts. The relation between histopathological findings and outcome was determined.Results: There were 14 cases of genitourinary embryonal rhabdomyosarcoma. In 2 cases (14%) residual embryonal tumor was pathologically confirmed following initial treatment. In 12 cases no obvious residual tumor was present following initial therapy. Rhabdomyosarcoma affected the bladder in 10 cases and the vagina in 2. There were no distant metastases in any child. Ten patients underwent local resection following chemotherapy and 2 underwent followup biopsies only without resection. A total of 11 cases showed well differentiated, posttreatment rhabdomyoblasts that was identifiable on routine hematoxylin and eosin staining with margins apparently free of tumor and 1 showed no morphological evidence of residual rhabdomyosarcoma. However, all cases demonstrated at least scant abnormal desmin and myogenin positive cells in the specimens. Four patients had no further treatment and none had clinical recurrence. All were well 10 years (range 8 to 13) after treatment. Eight patients received further treatment (chemotherapy and/or radiotherapy) based on clinical and pathological findings, followed by further resection in 3. One patient died of disease but 7 were well a median of 7.2 years (range 8 months to 13 years) after treatment.Conclusions: The significance of undifferentiated myogenin/desmin positive cells in genitourinary embryonal rhabdomyosarcoma in the absence of morphological residual/recurrent embryonal rhabdomyosarcoma remains unclear since such cells can be detected in all cases of posttreatment embryonal rhabdomyosarcoma. In some cases findings are associated with clinical disease recurrence, while others with identical histopathological findings following initial treatment have no clinical sequelae even in the absence of further treatment. In genitourinary embryonal rhabdomyosarcoma close and regular clinical surveillance is essential. Desmin/myogenin immunohistochemistry to detect scattered undifferentiated cells does not appear to provide useful prognostic information.

AIM:To review the surgical management of Wilms' tumour with persistent intravascular (vena caval +/- atrial) tumour extension.PATIENTS AND METHODS:Data were collected regarding operative details, tumour and 'thrombus' histology, and long-term outcome for patients with Wilms' tumour with cavo-artial extension.RESULT:From 1988 to 2004, 13 patients underwent treatment for Wilms' tumour with persistent intravascular extension. Preoperative chemotherapy was administered in 11/13 patients and postoperative radiotherapy in eight patients. Intravascular involvement was upto IVC (5), and right atrium (8) patients. Techniques employed for excision of intra-vascular component were: local cavotomy (3), extensive infra-diaphragmatic cavotomy without cardiopulmonary bypass (CPB) (1), and excision of cavo-atrial tumour with CPB (+/- hypothermia and cardiac arrest) (9). Mean time on CPB was 90 min. Caval repair was accomplished by primary repair (6) and pericardial graft in (7) patients. There were no intraoperative deaths and few major complications. Tumour thrombus contained malignant cells in 10/13 cases. Mean follow up has been for 55.4 months. To date, seven patients remain disease-free (one lost to follow up), disease recurred in five patients, three of whom have died. There were no symptoms related to the graft.CONCLUSIONS:Surgery for Wilms' tumour with persistent intravascular extension despite chemotherapy is technically challenging. CPB +/- hypothermia and cardiac arrest and extensive caval repair with a graft is safe and reliable in the long term.

PURPOSE:We evaluated functional outcome following heminephrectomy in duplex kidneys.MATERIALS AND METHODS:A total of 101 patients were identified who underwent upper or lower pole heminephrectomy between January 1995 and December 2000. We retrospectively reviewed 60 case notes with complete data. A total of 37 cases (62%) were diagnosed prenatally, while 20 (33%) presented as single or recurrent urinary tract infection and 3 (5%) as urinary incontinence. Of the patients 52 (87%) had unilateral duplex and 8 (13%) had bilateral duplex kidneys. In addition, 20 of the 60 patients (33%) had ureterocele. Mean age at surgery was 46 months (range 3 to 10 years).RESULTS:Mean function as assessed by nuclear renography of the duplex kidney before heminephrectomy was 39.9% (range 22% to 61%) and following heminephrectomy was 33.1% (13% to 60%). Mean decrease in function was 6.8%, with a decrease in function of less than 5% in 18 patients, 5% to 10% in 13 and more than 10% in 5. The functional values were increased by 1% to 5% in 9 patients and unchanged in 15 patients after heminephrectomy.CONCLUSIONS:Following heminephrectomy there was a significant decrease in 8% of patients and a small decrease in function in the remaining moiety in 51%.

We present a male infant with antenatally detected, focal, unilateral apparently isolated renal cystic disease with morphological features of renal involvement in tuberous sclerosis. Only one previous case with similar presentation has been described. Most affected children present with either diffuse bilateral renal cystic disease or extrarenal manifestations. The major genes involved in tuberous sclerosis are now well described, and early onset of severe renal cystic disease in affected children often is related to the presence of a contiguous gene deletion syndrome involving TSC2 and PKD1 on chromosome 16.

Purpose Maintaining adequate renal function without compromising cure in children with bilateral Wilms' tumor is surgically demanding and challenging. The aim of this study was to assess renal function and outcome in children treated in one institution for bilateral Wilms' disease by renal salvage procedures. Methods This study is a retrospective review of all patients with histologically proven bilateral nephroblastoma who underwent a renal salvage procedure between November 1973 and June 2002. The median follow-up time was 52 months (range, 8 to 326 months). Results Twenty-three patients were included in the study. The median age at diagnosis was 19 months (range, 5 to 65 months). Patients who presented before 1982 (n = 5) were treated surgically first followed by chemotherapy. The remainder (n = 18) received initial chemotherapy before the operation. Of the 46 kidneys, 18 had a nephrectomy. The remaining 28 underwent a renal salvage procedure. At follow-up, 19 patients had good renal function, 2 had satisfactory function, and 2 had renal failure. Seventeen of the 23 children are alive and tumor free at follow-up (74%). Four children died of distant metastases and 2 of renal failure. Local recurrence in the salvaged kidney was detected in 1 patient 12 years after surgery after the commencement of immunosuppression for renal transplantation. Conclusions These results confirm that renal salvage procedures, in combination with chemotherapy, are a safe and effective way of treating children with bilateral Wilms' disease. In addition, renal salvage surgery can maintain satisfactory renal function in the majority of these patients without an increased risk of local recurrence. When transplantation is required, the remaining native kidney should be removed to prevent tumor recurrence.

PURPOSE:Urinary extravasation with associated posterior urethral valves is uncommon and published articles are restricted to case reports. We propose a management algorithm on the basis of presentation of 18 boys with this condition.MATERIALS AND METHODS:In this retrospective review we analyze the clinical features, diagnostic radiological imaging (voiding cystourethrogram and (99m)technetium mercaptoacetyltriglycine scan) and measured glomerular filtration rate (GFR) for assessment of renal function in boys presenting with posterior urethral valves and urinary extravasation. Indications for surgical intervention and long-term outcome were evaluated. Results are presented as mean +/- SD.RESULTS:Patient age at presentation was 4 days (range 1 to 28). Salient features at presentation were abdominal distention in 55.5% of cases, flank mass in 55.5%, respiratory distress in 16.6% and septicemia in 22.2%. Patients were categorized into group 1 with ascites (6 boys) and group 2 without ascites (12). Followup was 70.8 +/- 5.6 months. In group 1 the 3 boys with ascites alone had a followup GFR of 29 versus 74 ml. per minute per 1.73 m.2 in 3 with urinoma plus ascites (p = 0.001) at 64 +/- 4.9 months. In group 2 the GFR in 3 boys with bilateral urinoma was 104.7 +/- 30.4 versus 54.3 +/- 29.4 ml. per minute per 1.73 m.2 in the other 9 with unilateral urinoma (p = 0.001) at 36 +/- 4.2 and 81.3 +/- 4.7 months, respectively. The ipsilateral kidney showed reduced function in 6 of 12 boys with unilateral urinoma from both groups.CONCLUSIONS:Renal function on the side of the urinoma is impaired, and the majority of patients have impaired global renal function. A management algorithm is proposed.

Objective To evaluate the results of endopyelotomy in children, an established method in adult practice as a treatment for pelvi-ureteric junction (PUJ) obstruction.Patients and methods Endopyelotomies undertaken between 1992 and 1999 by one surgeon in an established endourology unit were reviewed retrospectively. Children aged > 5 years presenting with pain and obstruction on isotope renography were selected for endopyelotomy. Patients with crossing vessels detectable on spiral computed tomography were treated by open pyeloplasty. Access to the renal pelvis was provided by a uroradiologist. Endopyelotomy was carried out through an Amplatz sheath of (median) 26 F. After applying traction to invaginate the PUJ an incision was made posterolaterally using electrocautery via an 11F paediatric resectoscope. Stenting was maintained for 6 weeks. In all, 13 patients (median age 10 years, range 5-14) were treated; two had associated calculi.Results The symptoms resolved and the obstruction was relieved in only six patients, with a median (range) follow-up of 50 (26-68) months. The seven patients in whom endopyelotomy failed, as indicated by persistent pain, proceeded to open pyeloplasty at a median (range) of 4 (1.3-79) months. Of these, two had presented with associated multiple calculi and significant hydronephrosis tone with an associated duplex system) and three had crossing lower pole vessels at open operation. One developed a urinoma after the original endopyelotomy and one had a retained stent fragment removed at the time of pyeloplasty.Conclusions Endopyelotomy in the symptomatic child requires a careful preoperative evaluation. Crossing lower pole vessels warrant an open pyeloplasty.

Objective To compare the differences in the quality of Mitrofanoff channels created using appendix and re‐tubularized small bowel (the Yang–Monti ileovesicostomy). Patients and methods The case‐notes were reviewed retrospectively for all patients who underwent a Mitrofanoff procedure using either appendix or small bowel, over a 5‐year period from June 1994 to July 1999. Results In all, 92 patients underwent 94 Mitrofanoff procedures; the appendix was used in 69 and small bowel in 25. The underlying diagnoses were exstrophy‐epispadias complex (38), neuropathic bladder (21), anorectal malformations and cloacal anomalies (15), posterior urethral valves (nine) and miscellaneous (nine). The mean (range) age at operation was 9.2 (1.1–18.3) years. The mean (range) follow‐up for the appendix group was 37 (6.7–65) months and for the Monti group 25 (6–66) months. Catheterization problems occurred in 18 (27%) patients from the appendix group; two needed an adjustment of technique, six dilatation and 10 revision. Stomal stenosis occurred in 10 (15%) patients, bladder level stenosis in four (6%) and conduit necrosis in two. Catheterization problems were reported in 15 (60%) patients from the Monti group; five needed revision, three dilatation and seven are being managed conservatively. The incidences of stomal stenosis (four, 16%) and bladder level stenosis (two, 8%) were comparable with the appendix group. In addition, two patients had distal channel (sub‐stomal) stenosis and two had mid‐channel stenosis. The problem unique to the Yang–Monti channel was a pouch‐like dilatation in seven patients (28%), all of whom presented with catheterization problems; five are being managed conservatively and two have needed pouch resection. Stomal prolapse occurred in five (7%) patients in the appendix group, but in none of the Monti group. Conclusions The appendix is the conduit of choice for a Mitrofanoff procedure. Re‐tubularized small bowel conduits have a considerably higher incidence of catheterization problems. Anatomical factors may contribute to the unique incidence of pouch formation.

OBJECTIVE:To determine the re-operation rate on the distal ureter after upper pole heminephrectomy with incomplete ureterectomy. PATIENTS AND METHODS:The case notes from one institution were reviewed retrospectively; 60 upper pole heminephrectomies with incomplete ureterectomy were undertaken in 39 girls and 16 boys (mean age at primary surgery 27 months, range 3--88). RESULTS:Thirty-two children (58%) had an antenatal diagnosis while 12 (22%) presented with a urinary tract infection (UTI) and six (11%) with urinary incontinence. Twenty-nine of the 60 renal units (48%) had an associated ureterocele and in nine (15%) the ureter was ectopic. Ten infants (18%) underwent initial puncture of a ureterocele. Five patients (8%), all females, required lower urinary tract re-operation. The indications for secondary surgery were recurrent UTIs in all and a prolapsed ureterocele in one. All five had ultrasonographic evidence of a dilated ureteric stump. Reflux into the retained stump was detected in one child. CONCLUSIONS:The re-operation rate for a redundant ureteric stump in this series was 8%. The risk of injury to the good ureter may outweigh the benefits of a complete ureterectomy.

OBJECTIVE:To compare bladder function in infants with primary vesico-ureteric reflux (VUR) and those with normal lower urinary tracts. PATIENTS AND METHODS:The study comprised 42 patients (36 males) with VUR (grades III to V) and 21 (16 males) without VUR (mean age in both groups, 6 months). Intravesical catheters were placed suprapubically under general anaesthesia and, after at least 24 h, natural-tilling urodynamics were monitored for three or more filling and voiding cycles. RESULTS:Various urodynamics patterns were defined: for infants without VUR these were either normal or normal-immature (discoordinated micturition) and none showed features indicating abnormal bladder function. By comparison, 24 of 42 infants with VUR showed abnormal urodynamic patterns (57%, 95% confidence interval 41% to 72%, P < 0.001). Seven (17%) were defined as unstable with small voided volumes, five (12%) had inadequate voiding dynamics, 10 (24%) showed a markedly dyssynergic pattern and two (5%) had obstructive patterns. The unstable, inadequate and obstructive patterns occurred only in boys. Detrusor activity during the filling phase occurred in 14 infants (13 boys) with VUR and in only one without VUR, when it was trivial. Post-void residual volumes of > 30% capacity were seen only in the VUR group (in 24 patients). There were 18 infants with VUR that showed the normal or immature urodynamics patterns, but for the 14 males the voiding pressures were higher than for those without VUR (mean maximum detrusor pressure, 161 and 117 cmH2O, respectively: P < 0.02). CONCLUSIONS:There is an association between abnormal urodynamic variables and a diagnosis of primary VUR in young infants (notably males) that may have important implications for concepts about the genesis and persistence of VUR.