Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-Up.

Pediatric adrenocortical tumors (PACTs) represent rare causes of malignancies. However, the south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene TP53. We aimed to retrospectively analyze the types of variables among hormone production, radiological imaging, tumor staging, histological and genetic features that were associated with the occurrence of malignancy in 95 patients (71% females) with PACTs from a unique center. The worst prognosis was associated with those aged > 3 years (p < 0.05), high serum levels of 11-desoxicortisol (p < 0.001), tumor weight ≥ 200 g (p < 0.001), tumor size ≥ 5 cm (p < 0.05), Weiss score ≥ 5 (p < 0.05), Wieneke index ≥ 3 (p < 0.001) and Ki67 ≥ 15% (p < 0.05). Furthermore, patients with MacFarlane stage IV had an overall survival rate almost two times shorter than patients with other stages (p < 0.001). Additionally, the subtractions of BUB1B-PINK1 (<6.95) expression (p < 0.05) and IGF-IR overexpression (p = 0.0001) were associated with malignant behavior. These results helped identify patients who are likely to have an aggressive course; further multicenter prospective studies are required to confirm our results. In conclusion, PACTs with these patterns of prognostic factors could be treated using an adjuvant approach that may improve the overall survival in such patients.

Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.

OBJECTIVE: Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGLs). This study aimed to investigate the clinical and genetic features of Brazilian children with PPGL. PATIENTS AND METHODS: This study included 25 children (52% girls) with PPGL. The median age at diagnosis was 15 years (4-19). The median time of follow-up was 145 months. The genetic investigation was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification and/or target next-generation sequencing panel. RESULTS: Of the 25 children with PPGL, 11 (44%), 4 (16%), 2 (8%), 1 (4%) and 7 (28%) had germline VHL pathogenic variants, SDHB, SDHD, RET and negative genetic investigation, respectively. Children with germline VHL missense pathogenic variants were younger than those with SDHB or SDHD genetic defects [median (range), 12 (4-16) vs. 15.5 (14-19) years; P = .027]. Moreover, 10 of 11 cases with VHL pathogenic variants had bilateral pheochromocytoma (six asynchronous and four synchronous). All children with germline SDHB pathogenic variants presented with abdominal paraganglioma (one of them malignant). The two cases with SDHD pathogenic variants presented with head and neck paraganglioma. Among the cases without a genetic diagnosis, 6 and 2 had pheochromocytoma and paraganglioma, respectively. Furthermore, metastatic PPGL was diagnosed in four (16%) of 25 PPGL. CONCLUSIONS: Most of the paediatric PPGL were hereditary and multifocal. The majority of the affected genes belong to pseudohypoxic cluster 1, with VHL being the most frequently mutated. Therefore, our findings impact surgical management and surveillance of children with PPGL.

Retroperitoneoscopic pyelolithotomy: a good alternative treatment for renal pelvic calculi in children.

INTRODUCTION: Nephrolitiasis, once considered an adult disease, has become increasingly prevalent in children, with na increase from 6% to 10 % annually in past 25 years. Kidney stones in pediatric population can result from metabolic diseases in up to 50% of children affected. Other factors associated with litiasis are infection, dietary factors, and anatomic malformations of urinary tract. Standard treatment procedures for pediatric population are similar to adult population. Extracorporeal shock wave lithotripsy (ESWL), ureterorenoscopy (URS), percutaneous nepfrolithotomy (PCNL), as well as laparoscopic and retroperitoneoscopic approaches can be indicated in selected cases. The advantages of laparoscopic or retroperitoneoscopic approaches are shorter mean operation time, no trauma of renal parenchyma, lower bleeding risk, and higher stone-free rates, especially in pelvic calculi with extrarenal pelvis, where the stone is removed intact. PATIENT AND METHODS: A 10 year-old girl presented with right abdominal flank pain, macroscopic hematuria,with previous history of urinary infections.. Further investigation showed an 1,5 centimeter calculi in right kidney pelvis. A previous ureterorenoscopy was tried with no success, and a double J catheter was placed. After discussing options, a retroperitoneoscopic pielolithotomy was performed. RESULTS: The procedure occurred with no complications, and the calculi was completely removed. The foley catheter was removed in first postoperative day and she was discharged 2 days after surgery. Double J stent was removed after 2 weeks. CONCLUSIONS: Retroperitoneoscopic pielolithotomy is a feasible and safe procedure in children, with same outcomes of the procedure for adult population.

Case Report: Prune perineum syndrome: a rare case with an unfavourable outcome.

Prune perineum syndrome (PPS) is a rare anomaly, with only two previous case reports, both dying in the perinatal period. We report the first case of PPS that reached childhood. The patient presented with a hypoplastic genitalia and bilateral cryptorchidism. There was no evidence of an anal orifice. A significant prune-like mass was observed, extending from the perineum to both gluteal regions and to a cephalic mid-line bony prominence, with a 1cm central orifice that discharged urine. MRI confirmed the previous findings and revealed a right crossed ectopic kidney, intestinal malrotation, a hypoplastic infrarenal inferior vena cava and a hypoplastic right iliac artery. Endoscopic evaluation through the orifice revealed a cavity lined by urothelial mucosa, with a small communication to the anterior urethra in its anterior wall. A staged reconstruction was planned, with a first-step urinary diversion through a continent abdominal reservoir associated to bilateral orchiopexy. He was discharged from the hospital three weeks later under intermittent catheterization. The next surgical step would be the resection of the perineal mass and its cavity associated to the removal of the prominent sacrococcygeal bones. Unfortunately, four months after the first surgery the patient developed an acute abdomen and was submitted to a laparotomy that revealed a necrotic ileal segment secondary to obstructive adherences. He developed severe malabsorption followed by septic shock, dying five weeks after the procedure. Due to the lack of literature, there is no consensus for the management of these cases. The wish of the family for a better quality of life and social acceptance, compelled us to perform a urinary diversion, to be followed by a plastic and orthopedic reconstruction. Despite the successful initial result, the patient developed a late abdominal obstruction that was misdiagnosed, precipitating his untimely death five months after the first procedure.

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.

BACKGROUND: Although chronic adrenocorticotropic hormone (ACTH) and androgen hyperstimulation are assumed to be involved in the pathogenesis of adrenal myelolipomas associated with poor-compliance patients with congenital adrenal hyperplasia (CAH), the expression of their receptors has not yet been demonstrated in these tumors so far. METHODS: We analyzed Melanocortin 2 receptor (MC2R), Androgen Receptor (AR), Leptin (LEP), and Steroidogenic factor 1 (SF1) expression using real-time qRT-PCR in two giant bilateral adrenal myelolipomas from two untreated simple virilizing CAH cases and in two sporadic adrenal myelolipomas. In addition, the X-chromosome inactivation pattern and CAG repeat numbers in AR exon 1 gene were evaluated in the 4 cases. RESULTS: The MC2R gene was overexpressed in myelolipomas from 3 out of 4 patients. AR overexpression was detected in 2 tumors: a giant bilateral myelolipoma in a CAH patient and a sporadic case. Simultaneous overexpression of AR and MC2R genes was found in two of the cases. Interestingly, the bilateral giant myelolipoma associated with CAH that had high androgen and ACTH levels but lacked MC2R and AR overexpression presented a significantly shorter AR allele compared with other tumors. In addition, X-chromosome inactivation pattern analysis showed a polyclonal origin in all tumors, suggesting a stimulatory effect as the trigger for tumor development. CONCLUSION: These findings are the first evidence for MC2R or AR overexpression in giant bilateral myelolipomas from poor-compliance CAH patients.

Laparoscopic ureteropyeloanastomosis in the treatment of duplex system.

PURPOSE: Duplex system is one of the most common anomalies of upper urinary tract. Anatomical and clinical presentation determine its treatment. Usually, the upper moiety has a poor function and requires resection, but when it is not significantly impaired, preservation is recommended. Laparoscopic reconstruction with upper pole preservation is presented as an alternative treatment. MATERIALS AND METHODS: Four female patients with duplex system, one presenting with recurrent urinary tract infection and the others with urinary incontinence associated to infrasphincteric ectopic ureter, were treated. Surgical procedure envolved a laparoscopic ureteropyeloanastomosis of the upper pole ureter to the pelvis of the lower moiety, with prior insertion of a double J stent. RESULTS: Surgical time varied from 120 to 150 minutes, with minimal blood loss in all cases. Follow-up varied from 15 to 30 months, with resolution of the clinical symptoms and preservation of the upper moiety function. CONCLUSION: Laparoscopic ureteropyeloanatomosis is a feasible and safe minimally invasive option in the treatment of duplex system.

Laparoscopic ureteropyeloanastomosis in the treatment of duplex system

PURPOSE: Duplex system is one of the most common anomalies of upper urinary tract. Anatomical and clinical presentation determine its treatment. Usually, the upper moiety has a poor function and requires resection, but when it is not significantly impaired, preservation is recommended. Laparoscopic reconstruction with upper pole preservation is presented as an alternative treatment. MATERIALS AND METHODS: Four female patients with duplex system, one presenting with recurrent urinary tract infection and the others with urinary incontinence associated to infrasphincteric ectopic ureter, were treated. Surgical procedure envolved a laparoscopic ureteropyeloanastomosis of the upper pole ureter to the pelvis of the lower moiety, with prior insertion of a double J stent. RESULTS: Surgical time varied from 120 to 150 minutes, with minimal blood loss in all cases. Follow-up varied from 15 to 30 months, with resolution of the clinical symptoms and preservation of the upper moiety function. CONCLUSION: Laparoscopic ureteropyeloanatomosis is a feasible and safe minimally invasive option in the treatment of duplex system.

Immunoexpression of adrenergic receptors in detrusor from patients with prune belly syndrome: a digital quantification.

INTRODUCTION: Prune belly syndrome (PBS) presents with large-capacity bladders, high compliance and post-void residual volumes. Operative and conservative treatments are controversial. When histologically compared to normal bladder, bladder outlet obstruction results in an up- or down-regulation of adrenoceptors. Our goal was to study the immunoexpression of adrenoceptors in detrusor from patients with PBS. MATERIALS AND METHODS: Bladder domes from PBS patients (n=14) were studied (PBG). For normal controls, bladder specimens were obtained at adult surgery (n=13) (CG1) and at child autopsy (n=5) (CG2). Staining was performed using antibodies to alpha1a, alpha1b, alpha1d and beta3 adrenoceptors. Five to 10 images were captured on an optic microscope with a digital camera and analysed with Photoshop. The immunocyhistochemical index with arbitrary units was calculated and compared. RESULTS: Mean age was 1.28, 64 and 1.41 years for PBG, CG1 and CG2, respectively. The immunohistochemical index with arbitrary units of alpha1a receptors was 0.06 in PBG, 0.16 in CG1 and 0.14 in CG2 (p=0.008); of alpha1b 0.06, 0.06 and 0.07 (p=0.781); and of alpha1d 0.04, 0.04 and 0.05 (p=0.618). Regarding beta3 the respective values were 0.07, 0.14 and 0.10 (p=0.378). CONCLUSION: Our results show a decrease in alpha1a-adrenoceptor immunostaining intensity in detrusor from children with PBS. Further in vitro studies are needed to determine whether these observations are physiologically significant.

Comparative and prospective analysis of three different approaches for live-donor nephrectomy.

PURPOSE: Living donor nephrectomy is usually performed by a retroperitoneal flank incision. Due to the significant morbidity and long recovery time for a flank incision, anterior extra peritoneal sub-costal and transperitoneal video-laparoscopic methods have been described for donor nephrectomy. We prospectively compare the long-term results of donors as well as functional recipients submitted to these three approaches. MATERIALS AND METHODS: A total of 107 live donor renal transplantations were prospectively evaluated from May 2001 to January 2004. Donors were compared with regard to operative and warm ischemia time, postoperative pain, analgesic requirements, and complications. Recipients were compared with regard to graft function, acute cellular rejection, surgical complications, and graft and recipient survival. RESULTS: The mean operative and warm ischemia times were longer in the video-laparoscopic group (p<0.001), whereas patients of the flank incision group presented more postoperative pain (p=0.035), required more analgesics (p<0.001), had longer hospital stays (p<0.001), and suffered more pain on the 90th day after surgery (p=0.006). In the sub-costal and flank incision groups, there was a larger number of paraesthesias and abdominal wall asymmetries (p<0.001). Recipient groups were demographically comparable and presented similar acute tubular necrosis incidence and delayed graft function. The incidence of acute cellular rejection was higher in the video-laparoscopic and flank incision groups (p=0.013). There was no difference in serum creatinine levels, surgical complications, or recipient or graft survival between groups. CONCLUSIONS: The video-laparoscopic and sub-costal approaches proved to be safe, and to provide donor advantages relative to the flank incision approach. Among recipients, the complication rate, graft survival, and recipient survival were similar in all groups.

Comparative and prospective analysis of three different approaches for live-donor nephrectomy

PURPOSE: Living donor nephrectomy is usually performed by a retroperitoneal flank incision. Due to the significant morbidity and long recovery time for a flank incision, anterior extra peritoneal sub-costal and transperitoneal video-laparoscopic methods have been described for donor nephrectomy. We prospectively compare the long-term results of donors as well as functional recipients submitted to these three approaches. MATERIALS AND METHODS: A total of 107 live donor renal transplantations were prospectively evaluated from May 2001 to January 2004. Donors were compared with regard to operative and warm ischemia time, postoperative pain, analgesic requirements, and complications. Recipients were compared with regard to graft function, acute cellular rejection, surgical complications, and graft and recipient survival. RESULTS: The mean operative and warm ischemia times were longer in the video-laparoscopic group (p<0.001), whereas patients of the flank incision group presented more postoperative pain (p=0.035), required more analgesics (p<0.001), had longer hospital stays (p<0.001), and suffered more pain on the 90th day after surgery (p=0.006). In the sub-costal and flank incision groups, there was a larger number of paraesthesias and abdominal wall asymmetries (p<0.001). Recipient groups were demographically comparable and presented similar acute tubular necrosis incidence and delayed graft function. The incidence of acute cellular rejection was higher in the video-laparoscopic and flank incision groups (p=0.013). There was no difference in serum creatinine levels, surgical complications, or recipient or graft survival between groups. CONCLUSIONS: The video-laparoscopic and sub-costal approaches proved to be safe, and to provide donor advantages relative to the flank incision approach. Among recipients, the complication rate, graft survival, and recipient survival were similar in all groups.

Laparoscopic renal surgery in infants and children: is it a feasible and safe procedure for all pediatric age groups?

PURPOSE: Although laparoscopy is considered the mainstay for most renal procedures in adults, its role in the pediatric population is still controversial, especially for smaller children. We reviewed our experience in pediatric renal laparoscopic surgery in three pediatric age groups in an attempt to identify if age has an impact on feasibility and surgical outcomes. MATERIALS AND METHODS: From November 1995 to May 2006, 144 pediatric laparoscopic renal procedures were performed at our institution. The charts of these patients were reviewed for demographic data, urologic pathology and surgical procedure, as well as perioperative complications and post-operative outcomes. The findings were stratified into 3 groups, according to patient age (A: < 1 year, B: 1 to 5 years and C: 6-18 years). RESULTS: Median age of the patients was 4.2 years (42 days - 18 years). We performed 54 nephrectomies, 33 nephroureterectomies, 19 upper pole nephrectomies, 11 radical nephrectomies, 22 pyeloplasties and 4 miscellaneous procedures. The 3 age groups were comparable in terms of the procedures performed. Conversion rates were 0%, 1.4% and 1.9% for groups A, B and C, respectively (p = 0.72). Incidence of perioperative complications was 5%, 8.2% and 7.8% for age groups A to C, respectively (p = 0.88). CONCLUSIONS: Most renal procedures can be performed safely by laparoscopy in the pediatric population, with excellent aesthetic and functional outcomes. The morbidity related to the procedure was minimal irrespective of the age group.

Laparoscopic renal surgery in infants and children: is it a feasible and safe procedure for all pediatric age groups?

PURPOSE: Although laparoscopy is considered the mainstay for most renal procedures in adults, its role in the pediatric population is still controversial, especially for smaller children. We reviewed our experience in pediatric renal laparoscopic surgery in three pediatric age groups in an attempt to identify if age has an impact on feasibility and surgical outcomes. MATERIALS AND METHODS: From November 1995 to May 2006, 144 pediatric laparoscopic renal procedures were performed at our institution. The charts of these patients were reviewed for demographic data, urologic pathology and surgical procedure, as well as perioperative complications and post-operative outcomes. The findings were stratified into 3 groups, according to patient age (A: < 1 year, B: 1 to 5 years and C: 6-18 years). RESULTS: Median age of the patients was 4.2 years (42 days - 18 years). We performed 54 nephrectomies, 33 nephroureterectomies, 19 upper pole nephrectomies, 11 radical nephrectomies, 22 pyeloplasties and 4 miscellaneous procedures. The 3 age groups were comparable in terms of the procedures performed. Conversion rates were 0 percent, 1.4 percent and 1.9 percent for groups A, B and C, respectively (p = 0.72). Incidence of perioperative complications was 5 percent, 8.2 percent and 7.8 percent for age groups A to C, respectively (p = 0.88). CONCLUSIONS: Most renal procedures can be performed safely by laparoscopy in the pediatric population, with excellent aesthetic and functional outcomes. The morbidity related to the procedure was minimal irrespective of the age group.

Laparoscopic pyeloplasty in children: Is the outcome different in children under 2 years of age?

PURPOSE: To report the outcomes of a series of children younger than 2 years with ureteropelvic junction obstruction (UPJO) who underwent laparoscopic pyeloplasty (LP), compared to children older than 2 years. PATIENTS AND METHODS: Twenty-three children (18 male) with UPJO underwent 24 Anderson-Hynes transperitoneal LPs between March 2003 and July 2007. The diagnosis of UPJO was confirmed on renal sonography and diuretic renogram. Nine children were younger than 2 years (Group 1) and 14 were older (Group 2). One child had bilateral UPJO and underwent two non-simultaneous procedures. All children were investigated with postoperative diuretic renogram and renal sonography, and the results were statistically analysed. RESULTS: LP was feasible without conversions or intraoperative complications in all 24 cases. Median age in Groups 1 and 2 was 11 months (4-24) and 74 months (27-204), respectively, (P<0.00001). No differences were found between the groups regarding median operative time, complications, technical difficulties, discharge home and follow-up. All patients in both groups experienced resolution of symptoms or obstruction. CONCLUSIONS: The LP in children younger than 2 years is highly successful with a low-rate of complications, and has the same outcomes as in older children.

Laparoscopic diagnosis and treatment of nonpalpable testis.

INTRODUCTION: Treatment of the cryptorchid testicle is justified due to the increased risk of infertility and malignancy as well as the risk of testicular trauma and psychological stigma on patients and their parents. Approximately 20% of cryptorchid testicles are nonpalpable. In these cases, the videolaparoscopic technique is a useful alternative method for diagnosis and treatment. MATERIALS AND METHODS: We present data concerning 90 patients submitted to diagnostic laparoscopy for impalpable testicles. Forty-six patients (51.1%) had intra-abdominal gonads. In 25 testicles of 19 patients, we performed a two stage laparoscopic Fowler-Stephens orchiopexy. The other 27 patients underwent primary laparoscopic orchiopexy, in a total of 29 testicles. RESULTS: We obtained an overall 88% success rate with the 2 stage Fowler-Stephens approach and only 33% rate success using one stage Fowler-Stephens surgery with primary vascular ligature. There was no intraoperative complication in our group of patients. In the laparoscopic procedures, the cosmetic aspect is remarkably more favorable as compared to open surgeries. Hospital stay and convalescence were brief. CONCLUSIONS: In pediatric age group, the laparoscopic approach is safe and feasible. Furthermore, the laparoscopic orchiopexy presents excellent results in terms of diagnosis and therapy of the impalpable testis, which is why this technique has been routinely incorporated in our Department.

Laparoscopic diagnosis and treatment of nonpalpable testis

INTRODUCTION: Treatment of the cryptorchid testicle is justified due to the increased risk of infertility and malignancy as well as the risk of testicular trauma and psychological stigma on patients and their parents. Approximately 20 percent of cryptorchid testicles are nonpalpable. In these cases, the videolaparoscopic technique is a useful alternative method for diagnosis and treatment. MATERIALS AND METHODS: We present data concerning 90 patients submitted to diagnostic laparoscopy for impalpable testicles. Forty-six patients (51.1 percent) had intra-abdominal gonads. In 25 testicles of 19 patients, we performed a two stage laparoscopic Fowler-Stephens orchiopexy. The other 27 patients underwent primary laparoscopic orchiopexy, in a total of 29 testicles. RESULTS: We obtained an overall 88 percent success rate with the 2 stage Fowler-Stephens approach and only 33 percent rate success using one stage Fowler-Stephens surgery with primary vascular ligature. There was no intraoperative complication in our group of patients. In the laparoscopic procedures, the cosmetic aspect is remarkably more favorable as compared to open surgeries. Hospital stay and convalescence were brief. CONCLUSIONS: In pediatric age group, the laparoscopic approach is safe and feasible. Furthermore, the laparoscopic orchiopexy presents excellent results in terms of diagnosis and therapy of the impalpable testis, which is why this technique has been routinely incorporated in our Department.

Laparoscopic anti-reflux plasty: experience of the University of São Paulo.

OBJECTIVES: Vesicoureteric reflux (VUR) is a common cause of urinary tract infections in children, being less commonly diagnosed in adults. Several anti-reflux plasties have been used successfully for the treatment of such condition, such as Politano-Leadbetter, Cohen and Gregoir-Lich techniques, the latter being our preferred approach in open procedures. Here we describe our experience with laparoscopic Gregoir-Lich anti-reflux plasty (LGLP) in children and adults. METHODS: The LGLP was used for the treatment of VUR in 15 patients (7 adults and 8 children). Four adults and 5 children had bilateral disease and both sides were treated at the same procedure. Data was collected prospectively and we analysed age at treatment, laterality, degree of VUR, previous anti-reflux procedures, operative time, number of detrusor stitches used in each side, intra-operative and post-operative complications, success rate and follow-up. RESULTS: A total of 23 ureteral units were treated. VUR was graded as I in one unit, II in 4 units, III in 10 units, IV in 7 units and 1 unit was not classified, as it was diagnosed by radioisotopic cystography. Two children had failed previous endoscopic procedures. There were no open conversions. Two muccosal perforations occurred during the procedure and were successfully treated laparoscopically. Nineteen out of 21 ureteral units (90%) presented no VUR at the cystographic control, and no bladder dysfunction was identified on follow-up. CONCLUSIONS: The LGLP is a feasible, minimally invasive alternative for VUR that reproduces the open procedure. It has an excelent success rate and is not associated to bladder disfunction, even in bilateral procedures.

Outcome of laparoscopic upper-pole nephrectomy in children with duplex systems.

PURPOSE: To report the results of laparoscopic upper-pole nephrectomy for children with duplex systems. PATIENTS AND METHODS: Nineteen laparoscopic transperitoneal upper-pole nephrectomies (11 on the left and 8 on the right) were performed in 17 patients with complete pyelocaliceal duplication. Postoperative follow-up consisted of clinical evaluation, as well as functional and image studies of the remaining lower unit with renal ultrasonography, 99mTc-DMSA, voiding cystourethrography, and urography or enhanced helical CT, according to individual needs. RESULTS: The mean operative time was 147 minutes (range 110-180 minutes). There were no conversions to open surgery and no transfusions. The mean follow-up was 57.1 months. Lower-unit function was preserved after 18 procedures (94.7%). Transient asymptomatic urinary-tract infection was observed in 5 of 17 children (29.4%). Vesicoureteral reflux resolved in 3 of 4 children (75%) and improved in the other, and all 7 ureteroceles associated with the resected upper unit were decompressed, although two (28.6%) remained present asymptomatically by ultrasonography. Empyema of the lower-ureteral stump was a late complication in 3 of the 19 duplex systems. CONCLUSION: Laparoscopic transperitoneal polar nephrectomy in children with pyelocaliceal duplication is feasible and presents all the advantages of minimally invasive procedures. It has good long-term results, as judged by preservation of the lower unit, regression of ureterocele and reflux, and reduction in the incidence of infection.

Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

OBJECTIVE: Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. MATERIALS AND METHODS: From 1995 to 2005, 7 patients with KTWS were evaluated and the charts of these patients were reviewed. RESULTS: PatientsÆ median age was 19-years (range 4 to 46-years) and only 1 was female. The clinical presentation included genital deformities in 3 cases, hematuria in 2 and urethrorragia in 2, one of which associated with cryptorchidism and phimosis. Three patients had an association of pelvic and genital malformations, including 2 patients with hematuria due to vesical lesions and 1 patient with left ureterohydronephrosis due to a pelvic mass. Two patients had urethral lesions. Treatment included endoscopic laser coagulation for 1 patient with recurrent hematuria and 1 patient with urethrorrhagia, pelvic radiotherapy for 1 patient with hematuria and circumcision in 2 patients with genital deformities. One patient required placement of a double-J catheter to relieve obstruction. Hematuria and urethrorragia were safely and effectively controlled with laser applications. Circumcision was also effective. The patient treated with radiotherapy developed a contracted bladder and required a continent urinary diversion. CONCLUSIONS: Urogenital involvement in patients with KTWS is not rare and must be suspected in the presence of hematuria or significant cutaneous deformity of the external genitalia. Surgical treatment may be warranted in selected cases.

Ureteral calcinosis in juvenile dermatomyositis: successful precocious surgical management.

We report a successful surgical intervention to repair bilateral ureteral strictures in a child with juvenile dermatomyositis (JDM) and ureteral calcinosis. This is the fourth reported case in medical literature. A 9-year-old-girl with severe JDM, a rare connective tissue disease characterized by skin and muscles vasculitis, was under immunosuppressive therapy. In the course of the disease, she presented recurrent urinary tract infections. Bilateral ureteral dilation was detected by ultrasound (US) and intravenous pyelogram (IVP). CT scan showed bilateral ureteral calculus. Ureteroscopy revealed bilateral ureteral calcinosis, confirmed by histopathological analysis. Bilateral double-J stents were placed, resulting in transient improvement of ureteral dilation and infection, but only the surgical removal of abnormal ureteral portions was successful. In conclusion, endourological approach is recommended for diagnosis of urinary tract involvement by JDM because radiological evaluation can be misleading. The immunosuppressive treatment and the resection of damaged ureteral segments have allowed the control of urinary complications.

Ureteral calcinosis in juvenile dermatomyositis: successful precocious surgical management

We report a successful surgical intervention to repair bilateral ureteral strictures in a child with juvenile dermatomyositis (JDM) and ureteral calcinosis. This is the fourth reported case in medical literature. A 9-year-old-girl with severe JDM, a rare connective tissue disease characterized by skin and muscles vasculitis, was under immunosuppressive therapy. In the course of the disease, she presented recurrent urinary tract infections. Bilateral ureteral dilation was detected by ultrasound (US) and intravenous pyelogram (IVP). CT scan showed bilateral ureteral calculus. Ureteroscopy revealed bilateral ureteral calcinosis, confirmed by histopathological analysis. Bilateral double-J stents were placed, resulting in transient improvement of ureteral dilation and infection, but only the surgical removal of abnormal ureteral portions was successful. In conclusion, endourological approach is recommended for diagnosis of urinary tract involvement by JDM because radiological evaluation can be misleading. The immunosuppressive treatment and the resection of damaged ureteral segments have allowed the control of urinary complications.