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WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications., Competing Interests: The authors report no conflicts of interest in this work., (Sociedad Argentina de Pediatría.)

The objective of this study was to describe the epidemiology, clinical presentation, treatment and nephrology follow-up of children with Wilms tumor. Data from 46 patients were collected. The clinical presentation occurred at a young age (< 40 months old), with initial symptoms of pain, abdominal mass, and fever. The prevalent histology type was mixed nephroblastoma. All patients received pre-surgery chemotherapy followed by, in most cases, unilateral nephrectomy. Patients with a high histological risk had a 7.2 relative risk of death (75 % confidence interval: 1.5-33.7) compared to the rest, and a 2.5 relative risk of recurrence (75 % confidence interval: 1.0-6.4). Disease-free survival at 5 years was 70 %. Once cancer treatment was completed, 80 % of patients maintained a stage-I kidney function. The most important prognostic factor was histology. These patients required a long-term nephrology follow-up., Competing Interests: The authors report no conflicts of interest in this work., (Sociedad Argentina de Pediatría.)

Objectives: Main objective: to perform a descriptive study of patients with nephroblastoma, diagnostic tests, medical and surgical treatment. Secondary objective: to evaluate the rate of relapse and 5-year survival and risk factors for relapse and death., Materials and Methods: Retrospective study of patients with nephroblastoma treated according to the protocol of the SIOP-2001. Demographic variables, comorbidities and associated syndromes were collected. Other data were tumor location, size, extent and stage. The relapse rate and the development of other secondary tumors as well as the long-term survival were also studied., Results: We collected 33 patients with nephroblastoma. A biopsy was performed in 7 patients (21.2%). The Kaplan-Meir curve for event-free survival (tumor recurrence) was 84% with a 95% CI = [0.73-0.98] and the Kaplan-Meier overall survival curve was 0.93 95% CI [0.85-1]. Recurrence occurred in all patients before the first year., Conclusions: Nephroblastoma is a tumor with a favorable prognosis. The unfavorable histology as well as advanced stages are factors of a poor prognosis. The follow-up must be exhaustive during the first year after the diagnosis.

Musculoskeletal pain is a frequent complaint in pediatrics usually related to benign conditions. However, it may also represent the initial symptom of serious diseases such as infections, malignancies or orthopedic emergencies. We present the case of a child diagnosed with Burkitt's lymphoma whose initial presentation was a limp. This is, to the best of our knowledge, the first case reported in the literature with this type of debut. This case illustrates the importance of including neoplasms in the differential diagnosis of atypical musculoskeletal pain, since early diagnosis can significantly improve their prognosis., (Copyright © 2010 Elsevier España, S.L. All rights reserved.)

Nephroblastomatosis is an abnormality of nephrogenesis and has been defined as the persistence of metanephric blastema into infancy. The association of these foci of fetal tissue with Wilms' tumor has been repeatedly documented in the literature. Numerous imaging modalities currently enable the detection of nephroblastomatosis and follow-up of patients to detect neoplastic change, which is especially indicated during infancy and early childhood, when the likelihood of Wilms' tumor developing is highest.

Objectives: To present to new cases of nephroblastoma or Wilms tumor diagnosed in adult age., Methods: The first case we report is a 16-year-old female with the diagnosis of stage I nephroblastoma after radical nephrectomy for a right renal mass. She underwent systemic polychemotherapy. The second case is a 33-year-old female with the diagnosis of nephroblastoma after percutaneous biopsy of a right renal mass. Due to the presence of lymph node, hepatic and lung dissemination systemic polychemotherapy (ACTD-VCR-DOX) was given. Right nephrectomy with regional lymph node dissection and hepatic metastasis excision were performed after confirmation of mass reduction. After that, the patient continued receiving systemic polychemotherapy with the same drugs. After resection of a lung nodule which did not disappear, and after confirmation of tumoral presence CB and VP 16 were added., Results: Both patients are disease-free after 58 and 46 months respectively., Conclusions: This type of tumor typical of childhood is extremely rare in adult age, and despite worse survivals and more aggressiveness are described, they may be treated with the same protocols used in children, following any of the two big co-operative groups: American NWTS or European SIOP.

Nephroblastoma or Wilms tumor is the most common renal neoplasia in children, representing 1/5 of the malignant tumors in this group. Nevertheless, the incidence of such tumor in adults is much rarer with less than 250 cases reported. Due to the low-frequency of this pathology in adults there is not a world widely accepted treatment modality. Currently, the therapeutic options derive from the National Wilms Tumor Study (NWTS). We report a new case with the radiological images, histologic findings, outcomes and follow-up.

Unlabelled: Tumors diagnosed during the first month of life are infrequent: 0.5 to 2% of all childhood neoplasms. This is an interesting group of tumors because their type, relative incidence, natural history and response to treatment differ from those seen in older children., Aim: To contribute the experience of our institution in congenital tumors the last 13 years., Material and Methods: The records of all neonates (< 31 days old) diagnosed with solid tumors since January 1990 to December 2002 have been retrospectively reviewed., Results: Twenty-seven neonates have been diagnosed with tumors in the last 13 years. Thirteen patients (48%) were prenatally diagnosed. Nine babies were diagnosed at the initial neonatal exam (40% of those diagnosedd after birth). Neuroblastoma was the commonest tumor (10 cases, 37%), of which 4 were stage I, 4 stage IV-S and 2 stage III. There were 8 teratomas (3 sacrocoxigeal, 1 retroperitoneal, 1 in the CNS, 1 orbitary and two oronasal), two hepatic tumors (1 hepatoblastoma, 1 hemangioendothelioma, two CNS tumors, two giant nevus (one on a hamartoma), and one each Wilms tumor, infantile fibrosarcoma and myofibroblastic tumor. Treatment was surgical resection alone in 17 cases (68%) and surgery + chemotherapy in 8 (32%) (5 neuroblastomas, one CNS tumor, one Wilms tumor and one presacral teratoma who developed a yolk sac tumor); 3 patients died (11%): one at surgery, one of tumoural airway obstruction at birth and one with craniopharyngioma. Among the 14 tumors that were initially not malignant, two can be locally agressive, one was an immature teratoma, the giant nevus with hamartoma developed in situ melanoma, the other nevus had meningeal melanosis with hydrocephalus, and one mature presacral teratoma developed a yolk sac tumor., Conclusions: Diagnosis of congenital tumors is performed earlier in recent years due to the wide use of prenatal ultrasound. Their natural history is more benign than in other age groups, except for CNS tumors and very large or obstructing tumors. The histological patern is not determinant of the outcome. Complete surgical excision is the treatment of choice, most cases not need adjuvant chemotherapy. We ought to pass this message on to our colleagues in prenatal diagnosis, so parents get reliable information.

Objectives: Multilocular cystic nephroma is a rare benign entity grouped among the cystic non genetic diseases, which usually presents with a clinical picture and radiological features indistinguishable from malignant neoplasias, making impossible to rule out malignancy preoperatively., Methods: We report two cases of multilocular cystic nephroma which were treated with different surgical attitudes despite their clinical and radiological similarities, because on the second case intraoperative pathologic study of the specimen was performed., Results: The diagnosis of multilocular cystic nephroma was confirmed in both cases, with the difference that radical nephrectomy was performed in the first case whereas the intraoperative study of the tumor in the second allowed to perform tumorectomy with renal parenchyma preservation., Conclusions: We consider that in the presence of a multiloculated renal mass of complex appearance and benign clinical behavior, the intraoperative study of the tumor will avoid performance of radical surgery.

Wilms' tumor occurs in 5-10 % of all cases of nephroblastoma. The metachronous form represents 2-3 % of cases. Most (96.2 %) metachronous tumors appear within the first 5 years of the primary tumor. Associated malformations are more common in bilateral cases. Metachronous tumors are a therapeutic challenge. We describe the case of an 11-year-old girl with left hemihypertrophy. The diagnosis was metachronous relapse of Wilms' tumor 7 years after the first diagnosis. The patient received five courses of preoperative chemotherapy and tumorectomy was performed. Because of post-surgical complications, nephrectomy was performed on her only kidney. Since she is anephric, the patient is in chronic renal failure and is dependent on dialysis. Treatment with carboplatin and etoposide was continued after surgery and the patient is currently in complete remission. The appearance of a metachronous Wilms' tumor 5 years after that of the primary tumor is rare. When a contralateral tumour develops, chemotherapy must be given until the size of the tumor is reduced in order to preserve renal function and avoid dialysis. In patients with chronic renal failure caused by bilateral nephrectomy, ongoing treatment with dialysis support can be achieved through the choice of effective drugs and knowledge of their pharmacokinetics and pharmacodynamics.

Objective: Wilms' tumor or nephroblastoma is the most common renal tumor of childhood. The incidence in adults is rare, estimated at about 1% of all cases and approximately 200 cases have been described in the world literature. We report a new case of adult Wilms' tumor and realize a short review., Methods/results: We describe a case of Wilms' tumor in a young male, aged 15 years, with associate genitourinary abnormalities. The patient underwent radical nepherctomy with postoperative chemotherapy., Conclusions: The Wilms' tumor in the adult population is exceptional, and the definitive diagnostic is based in the findings of the pathological analysis. The application of therapeutic protocolos for children to adults offers an smaller percentage of cure and poorer prognostic. Therapheutic protocolos more aggressive are necessary for increase the worse prognostic in the adult, but because of the rarity is difficult to define the most effective form of treatment.

Objective: A case of adult mesoblastic nephroma is presented. The clinical features, treatment, histological diagnosis and outcome are discussed., Methods/results: A 68-year-old patient in whom a renal mass had been detected by ultrasound is described. The patient underwent radical nephrectomy. The anatomopathological analysis demonstrated a mesoblastic nephroma. No signs of recurrence have been observed at 3 years' follow-up., Conclusions: Mesoblastic nephroma of adulthood has a benign behavior and recurrence is rare after surgery.

Objective: To report on a female patient with metachronous bilateral Wilms' tumor with a long survival., Methods: An 11-year-old girl underwent total nephrectomy when she was 4 years old for Wilms' tumor of the right kidney. She received cobalt therapy and chemotherapy, and the evolution was good for three years, at which time a control US scan detected a tumor in the left kidney that was diagnosed as Wilms' tumor. She underwent a partial nephrectomy at the Hospital Pediátrico de Centro Habana (Cuba) and received chemotherapy., Results/conclusion: A recent US scan and a descending pyelogram showed completely normal findings and growth of the remaining renal parenchyma. The patient is alive and well 7 years and 8 months later.

Background: Malignant hepatic tumors (Mht) are rare in children. Among them hepatoblastoma (HB) is the most common., Aim: To report the results of the multidisciplinary management in 6 consecutive children: five HB and one metastatic Wilms tumor (MWT)., Patients and Methods: The mean age of patients was 42 months. All HB patients had elevated serum alfafetoprotein (median 150,000 ng/ml). All patients received preoperative chemotherapy: HB patients received carboplatin/doxorubicin alternating with cisplatin, and the MWT patient, vincristine alone. Surgery included two formal right and two formal left hepatectomies, one extensive central resection with partial left segmentectomy, and one lateral segmentectomy. Extracorporeal circulation was used in the child with atrial involvement. All patients received postoperative chemotherapy., Results: All tumors had variable regresion on preoperative chemotherapy. Complete resection with negative margins was achieved in all patients. The degree of tumor necrosis on histology ranged from 60% to 90%. Alfafetoprotein levels fell to under 10 ng/ml in all HB cases, one to three months after surgery. All patients survive free of disease at a median follow up of 19 months., Conclusion: A multidisciplinary approach including the well timed used of chemotherapy and surgery is highly effective in the management of pediatric malignant tumors.

Objective: To describe a case of metanephric adenoma, a rare and little known tumor with no potential to malignancy. This tumor type can occasionally coexist with Wilms' tumor, with which it is histogenically related., Methods/results: A 54-year-old female patient was referred to the Urology Service for a small mass in the left kidney that had been incidentally detected during an ultrasound evaluation. Patient evaluation disclosed a solid, circumscribed, unencapsulated mass of 2.3 cm in its largest segment. It was mainly localized in the medulla of the kidney, although it was extensively in contact with the renal cortex. Histologically, it was comprised of small epithelial cells in a tubular or papillary arrangement, without atypia, mitosis, necrosis or invasion of adjacent renal parenchyma or vascular structures, and with abundant psammoma-like calcifications. The histological findings were characteristic of metanephric adenoma., Conclusion: Metanephric adenoma is an uncommon, morphologically distinct tumor type, with characteristic histopathological features. Despite its size, it is benign and should be distinguished from renal cell carcinoma or Wilms' tumor.

Objectives: To report a case of extrarenal Wilms' tumor, an uncommon site of presentation of this tumor type. The diagnostic and prognostic aspects of this condition are also discussed., Methods/results: A case of retroperitoneal extrarenal Wilms' tumor in a 2-year-old child is presented. The patient underwent surgery and received postoperative chemotherapy. At 3-years' follow-up, no evidence of metastasis has been observed., Conclusions: Extrarenal Wilms' tumor is rare and has been reported in the literature principally as case reports. Its clinical presentation varies according to the extrarenal localization. The procedures utilized to determine the size of the primary tumor, regional node involvement and the presence of distant metastasis are similar to those utilized in Wilms' tumor of the kidney. Our results demonstrate the utility of chemotherapy; the cytostatic agents utilized appear to be as effective as in Wilms' tumor of the kidney. In our view, radiotherapy should be reserved for the large unresectable residual tumor mass and for distant metastasis.

Objectives: The present study reviewed the records of patients with Wilms' tumor treated at the University Hospital of Zaragoza from January, 1980 to January, 1995., Methods: A retrospective study was conducted in 12 patients (5 boys and 7 girls) with Wilms' tumor, aged 9 months to 9.5 years, with special reference to the clinical symptoms and signs., Results: In 9 of the 12 cases, the tumor was localized to the left kidney and 3 cases had right-sided involvement. No patient showed an unfavorable histological finding, intraoperative rupture or the associated phenotypic manifestations that are frequently described in cases with this tumor type., Conclusion: The mortality and survival rates are comparable with those reported by other authors in our country.

Wilms' tumour represents 8% of tumours appearing during childhood, and it is the more frequent malignant tumour of the urinary tract in children. A review of 7 tumours occurring in our Hospital Area over the last 11 years is made, evaluating their incidence, clinical presentation, diagnosis as well as therapeutical approaches and complications. We also conducted a review of the most recent related literature, paying special attention to the new lines of research in the field of the genetics. Likewise, we contribute the latest guidelines and suggestions by the NWTS with regard to diagnosis and treatment of Wilms' tumour.

Renal multilocular cyst continues to be, up-to-date, an entity of unknown pathoetiology. In many occasions, particularly in children, it has been mistaken with a partially differentiated cystic nephroblastoma. Due to the absolute benignancy of the multilocular cyst and the likelihood of preserving the renal parenchyma, we consider of interest to contribute a brief review of the current pathoetiological theories and clinical development, as well as our experience in this disease.

The present study reports our experience in the management of 13 patients with trauma to previously asymptomatic pathological kidney (11.6% of 112 cases of renal trauma treated over the period 1980-1990). The diagnostic difficulties and treatments, which are unlike those of trauma to normal kidney, are discussed and the literature reviewed. Hydronephrosis from ureteropelvic junction stenosis was the preexisting pathology that was frequently diagnosed (41.6%), followed by trauma to kidney with tumor (30.7%). Twelve (92%) patients underwent surgery: 2 (15.3%) were emergency and the rest were elective surgery. One patient with hilar sinus cysts received medical treatment. Conservative surgery was performed in 5 renal units (1 with bilateral involvement) and nephrectomy was performed in 8 patients (65.1%). The kidney with a tumor is more compromised by the renal injury. Furthermore, post trauma contusion/laceration of the tumor may present problems relative to tumor stage.

Three cases of Drash syndrome (DS) are presented. Two of them were 2 years old, the third one a newborn. Two are autopsy cases, one of the patients is alive. All three of them had nephrotic syndrome and renal failure, with mesangial sclerosis. All three had ambiguous genitalia, abdominal testes with variable degrees of dysgenesis and bilateral gonadoblastoma. Two cases had 46XY karyotype, in one case it was not performed. Two patients had nephroblastoma, one of them after several months of nephropathy, in the other it was the cause of consultation. The patient without nephroblastoma died at the age of 26 days with renal failure. We think that the original triad of DS: nephroblastoma, pseudohermaphroditism and nephropathy should be more precisely described and expanded to include related alterations in each one of its 3 elements: nephroblastomatosis, hamartomas, probably mesoblastic nephroma and pyelocaliceal malformations in addition to Wilms' tumor, variable disorders of sexual differentiation, gonadal dysgenesis and neoplasia, in addition to pseudohermaphroditism and superficial cortical renal dystrophy and increased reniculi, in addition to mesangial sclerosis. The various clinical forms of the syndrome are combinations of the triad in which a component can be missing and/or other related malformations be present. Chromosome anomalies are possibly responsible for this phenomena. Splitting into separate syndromes should not be done until the chromosome alterations and the regions and genes involved are identified.

A total of 115 children with a histopathological diagnosis of Wilms' tumor were studied. The average age was three years. An abdominal tumor was the most frequent clinical manifestations, with a predominating clinicopathological stage II. The most important prognostic factors were the clinical stage and histological subvariety. A five year disease free period during the early stages was very favorable. On the other hand, advances stages and unfavorable histopathology established a poor prognosis. In our experience, stages I and II and favorable histology should not receive radiotherapy but instead brief chemotherapy. The global five year survival was 82%. All the patients with an unfavorable histology occupied stages II and IV. a comparison of disease free survival between stages I and II against III and IV showed statistical significance (p 0.01). Statistical significance also appeared upon comparison between unfavorable versus favorable (p 0.01) histology. Emphasis is placed upon multidisciplinary management of this type of malignant neoplasias.

We reviewed the records of patients with genitourinary tumors that had been diagnosed and treated at the Section of Pediatric Surgery of Marqués de Valdecilla Hospital from 1974 to 1990. There were 14 such tumors. Of these, 12 (85.7%) were Wilm's tumor. This tumor type is the subject of the present study. Regarding its clinical features, 33.3% of the cases consulted for hematuria and an abdominal mass was the most common finding in the course of the disease (83%). We underscore the usefulness of CT and ultrasound in making the diagnosis. In the cases where these noninvasive imaging techniques were used, their efficacy rate was 100%. Together with IVP, these constitute the fundamental diagnostic tools. With regard to treatment, radical nephrectomy was performed in all cases and combined with radio and chemotherapy according to protocol. Pathological examination confirmed the diagnosis of Wilms' tumor in all the cases. Following the NWTS classification, there were 2 stage I,5 stage II, 2 stage III and 3 stage IV. Apart from tumor stage, the histological features significantly influenced the diagnosis. The survival rates for those with favourable or unfavourable histologic features were 70% and 36%, respectively.

Wilms tumour is an infantile neoplasia with low incidence in adults. Worldwide literature describes 260 cases but only 50 meet the diagnostic criteria described by Kilton. This paper presents one case diagnosed in our service and includes a review of the literature.

A multilocular cystic nephroma is described in a female patient diagnosed as having a mucinous cystadenocarcinoma of the left ovary, treated by surgery. It is presented as a mixed mass in the left kidney; image findings were specified with the new image diagnostic methods currently available, ultrasonography and computerized tomography. In the ultrasonographic study the mass is presented as an heterogenous image, with multiple anecogenic areas, separated by more ecogenic bands, situated mainly in the lower pole affecting all the cortical area and occasionally invading renal sinus. In the computerized tomography study a cystic mass is observed, with cysts of a different size that, after administering intravenous iodine, show a density increase in intercystical fibrous tracts. In cases with more complex image presentations, fine needle puncture is recommended, preferably in different areas in the mass in order to rule out the presence of malignant cells.

We review 37 patients diagnosed of Wilms' tumor at the Clinica Infantil "La Fe", in the last ten years, looking at the misdiagnosed cases. In two children, histological study showed a multilocular renal cyst. We also report a case previously diagnosed as being a multicystic kidney; the histological study revealed, however, a cystic partially differentiated nephroblastoma. No case of extrarenal tumors was present in the misdiagnosed patients. We comment the difficulties to make a correct diagnosis when confronted with the above mentioned entities and before histological data are available.

A clinical case of Wilms' tumor with primary metastasis to right thigh without pulmonary metastasis that would explain the dissemination to soft tissues is presented. Considerations on the mechanism of metastasis dissemination are made in regard to the question in this particular location. We have not found a similar case in medical literature.

Four patients diagnosed of having a tumor of Bolande and treated at our institution in the past ten years are presented. In two of them, early diagnosis was aided by prenatal echographic techniques; the other two diagnoses were suspected ar three and ten days of age because of an abdominal mass. The four of them underwent a complete study which included: a plain abdominal film, an ultrasound scan and an intravenous urogram; the last three patients were also surveyed by a CT scan of the abdomen. Surgery was undertaken early on all the patients, the time of operation being in every instance within the first month of life. A laparotomy was performed and, once the contralateral kidney had been carefully examined, a nephroureterectomy was implemented, having been able to preserve in all the cases the suprarenal gland in view of the benign nature of the tumor. A histologic study confirmed the diagnosis and revealed the complete delimitation of the tumor by the renal capsule. The authors underscore the importance of this tumor's suspicion in the face of any solid renal mass detected by prenatal echography or in the neonatal period, since early diagnosis and treatment are imperative in order to prevent the ensuing complications in the rare and unfortunate cases that show a malignant tumoral trend.

For many years, from the discovery of X-ray up today, medical morfological diagnosis has been based on the analysis of radiographic image. Having regard to the potential risks of ionizing radiations, radiological exploration can not be taken into account as they are harmful, and in some cases they can become dangerous. Authors point out that an abusive using of radiological exploration exists in our country. As for children, a negligent use of radiology can reach very concerned limits. Ultrasound systems which are currently available, used before radiology in a systematical manner, can resolve a morfological diagnostic in many cases, in a sure and faster way, with the great advantage to be a risk-less procedure because ultrasounds are mechanical not ionizing waves. Six cases are shown as an example of the diagnostic possibilities of ultrasound in pediatrics.

Bilaterality is uncommon in Wilms' tumor, being present in 4% to 8% of the cases. Definite progress has been made in the treatment with marked improvement in prognosis. The recent trend toward more conservative sugery, preoperative chemotherapy an avoidance of high-dose radiation therapy has yielded good results. This is confirmed in our two cases with synchronous tumors.

The case was that of a 21-month-old infant who presented a great inoperable Wilm's tumor that was treated with vincristine to the point of practically disappearing. Severe typhoid fever that was complicated by multiple intestinal parasitoses (ascariasis, trichuriasis, giardiasis and strongyloidiasis) appeared. Possibly, tumoral necrosis, salmonellosis and the parasitoses formed a sac that opened to the hepatic angle of the colon. Finally, multiple liver metastases were discovered and confirmed pathologically. The patient died 36 hours after surgical reexamination and liver biopsies, from causes not clearly explained. Comments are made on the diagnostic problems originated by rareness of the association of typhoid fever resistant to chloramphenicol, intestinal parasitoses and a great Wilms' tumor and the possible influence of chemotherapy and radiotherapy in the evolution of the case.

We present three cases of patients with Wilms' tumour. The first case showed a bilateral tumour with hemihypertrophy and Beckwith-Wiedemann syndrome. The second one had hemihypertrophy and double left pyelocalyceal system with double renal tumour. The last case had a horse-shoe kidney with a tumour on the right and a left hydronephrosis. The second and third cases had a good evolution.