Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report.

BACKGROUND: The association of hypertension with congenital renal hypoplasia has been established. We report a case of an infant who underwent nephrectomy for hypertension. CASE PRESENTATION: Magnetic resonance imaging for the mother revealed fetal renal masses, and fetal multicystic dysplastic kidney was suspected. Following birth, the baby developed hypertension. Numerous investigations revealed that the left kidney was non-functional, and she was initiated on benazepril hydrochloride. However, because the drug response was poor, the left kidney was removed at the age of 7 months. Examination of the renal specimen revealed abrupt transition from normal to atrophic cortex with lobar atrophy and cysts. Tubular atrophy, marked abnormal blood vessels with wall thickening, gathered immature glomeruli, and parenchymal destruction were observed. Renin was partially localized in the proximal tubules and the parietal epithelium of the Bowman's capsule in the immature glomeruli. We speculated that an abnormal vascular structure and irregular renin localizations may be the cause of hypertension. Serum renin and aldosterone levels gradually reduced post-surgery, reaching normal levels on the 90th postoperative day. A long follow-up is needed due to the possibility of the child developing hypertension in the future. CONCLUSION: This is a case of an infant with MCDK, which discusses the clinicopathological features based on the pathophysiological analysis, including renin evaluation.

Natural History of Contralateral Hypertrophy in Patients with Multicystic Dysplastic Kidneys.

PURPOSE: We evaluated predictive factors for compensatory hypertrophy and renal outcomes in a large cohort of patients with multicystic dysplastic kidneys. MATERIALS AND METHODS: We conducted a retrospective review from 1997 to 2016. Contralateral kidney and multicystic dysplastic kidney length were recorded from all ultrasounds as well as creatinine when available. We used generalized estimating equations to determine predictors of contralateral kidney length. RESULTS: A total of 443 children with multicystic dysplastic kidneys were identified based on sonographic findings and lack of function on nuclear scan. Average followup was 3.2 years (IQR 1.5 to 5.7). Median time to involution in patients diagnosed before age 2 years was 5.5 years (95% CI 3.8-7.0). In all patients the median time to contralateral hypertrophy was 2.7 years (95% CI 2.2-3.3), and 90% of patients manifested contralateral hypertrophy by 10 years. After adjusting for age, gender, multicystic dysplastic kidney side and cohort status for each year of involution after age 2 years, the contralateral kidney grows 0.35 cm longer (95% CI 0.01-0.68, p = 0.04) compared to cases without involution. Patients with contralateral hypertrophy had greater creatinine clearance at followup (83 vs 61 ml per minute, p = 0.07), although this finding was not statistically significant due to limited data. CONCLUSIONS: The majority of children with multicystic dysplastic kidneys will have contralateral hypertrophy by age 3 years. Multicystic dysplastic kidney involution predicts contralateral kidney growth rate after age 2 years. A small cohort of patients with multicystic dysplastic kidneys will not exhibit contralateral hypertrophy and may be at risk for renal insufficiency.

Functional Results of Laparoscopic Pyeloplasty in Children: Single Institute Experience in Long Term.

OBJECTIVE: The aim of this study was to evaluate the long-term functional outcomes of laparoscopic pyeloplasty (LP) in children for consecutive cases of single institute. MATERIALS AND METHODS: Our laparoscopy database was investigated for children in terms of LP between June 2008 and April 2015. All the patients had ureteropelvic junction obstruction (UPJO) and LP was performed. Demographic data including age, gender, side of UPJO, operation time, estimated blood loss (EBL), hospital stay and complications according to Clavien classifications were recorded. Renal ultrasonography and diethylenetriamine penta-acetate (DTPA) scintigraphies were respectively performed 3, 12 and 24 months after surgery. Statistical analyses were performed and p value was accepted as significant at <0.05. RESULT: Mean follow-up was 34 ± 4.7 months. The mean age was 13 (6-72) months. A total of 153 (110 boys and 43 girls) LP patients enrolled. Of that, 93 (60.78%) LP were in left side and 60 (39.21%) were in right side. Three cases needed open conversation according to difficulties in anastomosis. Aberrant crossing vessel was observed in 12 (7.84%) patients. The mean operation time was 155 ± 21 min and the mean EBL was 22 ± 11.1 ml. The mean hospital stay was 3.4 days. Anastomotic leakage was the common complication (in 13 patients) that was successfully managed conservatively (Clavien 1). Eight patients experienced unsuccessful LP and underwent open pyeloplasty (Clavien 3b). The mean split renal function significantly increased in DTPA scintigraphy in follow-up. The overall success was 91%. CONCLUSIONS: The LP procedure can be an effective and safe surgical method for childhood UPJO, specifically in the experienced hands of pioneer centers.

Supranormal differential renal function in unilateral hydronephrotic kidney: insights from functional MR urography.

PURPOSE: To retrospectively assess supranormal differential renal function (DRF) in unilateral hydronephrotic kidney by functional MR urography (fMRU). MATERIALS AND METHODS: The ethics committees granted exempt status for this study and also waived the need for informed consent. A retrospective analysis was performed of all patients undergoing fMRU from January 2008 to November 2011. DRF was measured by both the area under the curve method and Rutland-Patlak plot. Glomerular DRF per unit of volume and kidney volumes were analyzed. Kidney volumes were compared with nomograms. RESULTS: Of 170 children, 3 patients (2, 12, and 14 years) with a left ureteropelvic junction obstruction were included. Glomerular DRF per unit of volume was slightly higher on the dilated side but remained within normal range (<55%). Dilated kidney volumes were higher on the dilated side (≥55%). The volumes of nondilated kidneys were within normal range. CONCLUSION: The data support the fact that the dilated kidney was not hyperfunctioning and that the nondilated kidney was not hypofunctioning. Based on these three patients, it could be assumed that supranormal DRF on the dilated side might be explained by a slight kidney volume asymmetry, in association with higher DRF per unit of volume, remaining within normal physiological range. J. Magn. Reson. Imaging 2014;40:577-582. © 2013 Wiley Periodicals, Inc.

Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney.

The clinical spectrum of renal dysplasia includes the non-functioning multicystic dysplastic kidney (MCDK). We report our experience of the outcome of unilateral MCDK and its contralateral kidney in 101 children with the diagnosis of MCDK from 1985 to 2009. Data collected included urine protein/creatinine ratio, estimated GFR (eGFR), blood pressure, surgical intervention, renal length and abnormalities of the contralateral kidney, and the involution rate. There was a predominance of left-sided MCDK. Diagnosis was made prenatally in 86.7%. Contralateral abnormalities included vesicoureteral reflux (16.8%), UPJ obstruction (4.1%), and megaureter (2.4%). Complete involution of MCDK occurred within 5 years in 60%. Compensatory hypertrophy of the contralateral kidney to >97% occurred in 74.1%. Nephrectomy was performed in 19.8%. There was an increased risk of chronic kidney disease (CKD) stage ≥ 2, and hypertension in those with contralateral abnormalities (p<0.0001; p<0.001 respectively). In those without contralateral abnormalities, hyperfiltration with mean eGFR of 149 ± 13 ml/min/1.73 m(2) was seen in 32% and proteinuria in 9.8%. There was a significantly inverse relationship between proteinuria and eGFR (p<0.0001). In conclusion, children with contralateral abnormalities are at risk for developing decreased kidney function, whereas a substantial number of patients with no obvious contralateral abnormalities have markers of renal injury. Therefore, systematic follow-up of all patients is recommended.

Multicystic dysplastic kidney: our experience in non-surgical management.

INTRODUCTION: Although multicystic dysplastic kidney (MDK) is a common renal anomaly, the management of this condition remains controversial. The purpose of this study was to focus on its regression by ultrasound (US) scan for MDK managed conservatively. MATERIALS AND METHODS: Between 1990 and 2010, 50 children with MDK were retrospectively studied. All patients were submitted to radioisotope scan to confirm the diagnosis, and a micturating cystogram to exclude other uropathies. RESULTS: Of the 50 patients, 19 underwent nephrectomy, and the other 31 were conservatively managed with clinical and US scan follow-up. The mean follow-up time (range 6 months to 11 years) in the non-operated group was 6.2 years. Of the 31 children with nonsurgical management, 17 (54.8%) showed total involution on US scan, 7 (22.6%) showed a partial regression, and 7 (22.6%) were unchanged at the time of this study. The mean time to complete disappearance on US scan was 2.5 years (1-4 years). No children developed hypertension or tumors. DISCUSSION: The natural history of MDK is usually benign, but patients must have long-term follow-up with US scan. In addition, many studies confirmed that the disappearance of it on a US scan does not mean a total involution of the affected kidney. We recommend a strict follow-up even when US scan shows an undetectable kidney.

Voiding Cystourethrogram in Children With Unilateral Multicystic Dysplastic Kidney: Is It Still necessary?

OBJECTIVE: To evaluate the value of the voiding cystourethrogram (VCUG) in children with multicystic dysplastic kidney (MCDK) who have a normal versus abnormal contralateral kidney and bladder ultrasound (US), and assess the risk of having vesicoureteral reflux (VUR) or urinary tract infection (UTI) based on the US results. METHODS: A retrospective chart review including children with unilateral MCDK with postnatal US and VCUG available at our institution between January 2008 and September 2017 was performed. Analysis was done to find association between abnormal contralateral US and contralateral VUR and UTI. RESULTS: One hundred and fifty-six children were analyzed; 118(75.6%) patients had a normal contralateral kidney US, while 38(24.4%) had abnormal US. The rate of severe contralateral VUR (grade IV and V) was 2 (1.7%) and 5 (13.2%) in children with normal and abnormal contralateral US, respectively. The risk analysis demonstrated a significant association between severe VUR on the contralateral kidney and an abnormal contralateral US (odds ratio = 7.73; 95%CI: 1.43-41.81; P = 0.018) and no significant association with UTI (odds ratio = 1.58; 95%CI: 0.50-4.94; P = 0.435). CONCLUSION: Our data suggests, the rate of severe contralateral VUR in children with unilateral MCDK and normal contralateral kidney is low. VCUG should be considered for infants with proven MCKD and alterations on the contralateral kidney on US. Following patients with MCDK and normal contralateral kidney without the use of VCUG is a reasonable approach, unless there is development of signs and symptoms of recurrent UTI or deterioration of the renal function. We found that abnormal contralateral kidney US was associated with severe VUR.

Antenatally detected ureterocele: Associated anomalies and postnatal prognosis.

OBJECTIVE: We purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients. MATERIAL AND METHODS: We reviewed the records of 24 patients with the diagnosis of ureterocele in our referral center between January 2010-March 2017. Prenatal sonographic findings, antenatal course, and postnatal follow-up were obtained. RESULTS: The mean gestational age at first US diagnosis was 24.5 ± 2.9 weeks. 13 (54.1%) of fetuses were female, and 11 (45.9%) were male. Ureterocele was associated with the duplex kidney in 17 (70.8%), MCDK in 5 (20.8%) and hydronephrosis with a single system in 1 (4.2%) and pelvic kidney in 1 (4.2%) fetuses. Postnatal follow-up was achieved in 22 of 24 (91.6%) cases, and mean follow-up interval was 56 ± 14.2. Months. The diagnosis of ureterocele was confirmed in 22 (91.6%) cases postnatally. 15 of 22 (68%) cases were classified as extravesical ureterocele, and 7 (32%) cases were intravesical ureterocele. Postnatal confirmation of duplex kidney achieved in 16 of 17 (94.1%) patients. 17 (77.2%) patients were required surgical intervention, and 5 (22.8%) cases were managed conservatively. 15 of 16 (93.7%) cases who were diagnosed duplex kidney underwent surgery however 2 of 5 (40%) cases which were confirmed MCDK required an operation. Cystoscopic ureterocele incision was the initial approach for the surgical management and performed all of the cases which required surgery. It was curative in 10 of 17 (58.8%) patients and 7 (41.2%) cases needed to further operations. Ureteroselectomy and common-sheath ureteroneocystostomy was performed in 5 (29.1%) cases and. 2 (%11.7%) cases underwent partial nephrectomy. CONCLUSION: Ureterocele can be accurately diagnosed by prenatal sonography, and it is a significant clue for the diagnosis of a duplex kidney. Postnatal prognosis depends on associated anomaly and presence of reflux and upper pole function.

Hypertension and microalbuminuria in children with congenital solitary kidneys.

AIM: According to the hyperfiltration hypothesis, a low nephron endowment will lead to hyperfiltration in the remaining glomeruli and is associated with systemic hypertension, proteinuria and glomerulosclerosis. Being born with one functioning kidney instead of two, for instance because of unilateral renal agenesis or multicystic dysplastic kidney, is a cause of congenital renal mass reduction. METHODS: In order to study the effect of congenital renal mass reduction on renal function and blood pressure, a retrospective chart review of 66 patients at the Pediatric Renal Center of the VU University Medical Center was performed. As intrauterine growth restriction is associated with a low nephron endowment, the additional effect of birthweight was also studied. RESULTS: A total of 50% of patients with congenital renal mass reduction is found to be hypertensive, using anti-hypertensive drugs, and/or having microalbuminuria (>20 mug/min). Patients born small for gestational age have significantly smaller kidneys and lower estimated glomerular filtration rate than patients with a normal birthweight. CONCLUSIONS: We conclude that microalbuminuria and/or hypertension is present in 50% of patients with congenital solitary kidneys, which warrants a systematic follow-up of blood pressure, proteinuria and renal function in all patients with congenital solitary functioning kidneys, especially in patients with a low birthweight.

Predictors of poor neonatal outcomes in prenatally diagnosed multicystic dysplastic kidney disease.

OBJECTIVE: Multicystic dysplastic kidney (MCDK) is one of the most common anomalies detected by prenatal ultrasound. Our objective was to identify factors associated with severe adverse neonatal outcomes of prenatally diagnosed MCDK STUDY DESIGN: A retrospective review of prenatally diagnosed MCDK (1 January 2009 to 30 December 2014) from a single academic center was conducted. The primary outcome was death or need for dialysis among live-born infants. Associations between prenatal characteristics and outcome were analyzed by Fisher's exact test and Mann-Whitney test. RESULTS: A total of 53 cases of prenatally suspected MCDK were included, of which 46 cases were live-born and confirmed postnatally (38 survivors, 8 non-survivors). Prenatally diagnosed extrarenal anomalies, bilateral MCDK, contralateral renal anomalies, and anhydramnios were significantly associated with death or need for dialysis (all p < 0.0001). CONCLUSIONS: Prenatally identified findings are associated with adverse neonatal outcome, and can guide counseling and management planning. In the absence of significant associated findings, prenatally diagnosed unilateral MCDK has a benign neonatal course.

Clinico-pathological profile of 22 cases of cystic renal dysplasia.

Renal dysplasia is one of the major renal developmental anomaly characterized by abnormal structural organization and development of metanephric elements. It is usually detected antenatally or in early childhood. The kidney may be multicystic, aplastic, hypoplastic or duplex. We studied 22 cases of cystic renal dysplasia diagnosed over a period often years to identify the spectrum of morphological changes in dysplastic kidney, with special emphasis on mesenchymal changes. Clinical, radiological and gross morphologicalfeatures were noted. Microscopic features were studied in detail, including the epithelial and mesenchymal changes. Twenty-one of the 22 cases studied were children. One case was a 21-year-old adult, which is a rare age at presentation. Male to female ratio was 1.1:1. One of our patients had contra-lateral ureteric stenosis, a rare anomaly reported with renal dysplasia. Ten patients, all autopsy cases, had multi-system congenital anomalies. As cystic renal dysplasia is not a hereditary disease, it must be differentiated from polycystic kidney disease. Other differential diagnoses are cystic nephroma and cystic partially differentiated nephroblastoma. Histopathological examination is the final diagnostic tool since radiological features alone may not be sufficient to exclude other cystic renal lesions. Cartilage may not be seen in all cases of renal dysplasia. Once diagnosed, other associated anomalies should also be looked for.

Unilateral multicystic renal dysplasia: Prenatal diagnosis on ultrasound.

Multicystic renal dysplasia (MCRD) is the most common cause of abnormally enlarged kidney, diagnosed on antenatal ultrasound examination. It is an abnormality of the embryonic development in which the renal parenchyma is substituted by nonfunctioning renal tissue made up of cysts which do not communicate with each other. Vesicoureteric reflux (VUR), pelviureteric junction obstruction, vesicoureteric junction obstruction, and ureterocele are the most commonly seen abnormalities in contralateral kidney. Here, we report a case of prenatal diagnosis of unilateral MCRD with VUR in contralateral kidney. In conclusion, we want to emphasize optimal use of ultrasound imaging to detect such abnormalities as early as possible to guide the proper management.

Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.

BACKGROUND: Renal hypodysplasia, characterized by a decrease in nephron number, small overall kidney size, and maldeveloped renal tissue, is a leading cause of chronic renal failure in young children. Familial clustering and renal hypodysplasia phenotypes observed in transgenic animal models suggest a genetic contribution. Uroplakin IIIa (encoded by UPIIIA) is an integral membrane protein present in urothelial plaques, and the murine UPIIIa knockout is associated with urothelial anomalies and vesicoureteral reflux. De novo UPIIIA mutations recently were identified in 4 of 17 patients with severe bilateral renal adysplasia. METHODS: To evaluate the overall role of UPIIIA in human renal hypodysplasia pathogenesis, we performed UPIIIA mutation analysis in a cohort of 170 pediatric patients affected by severe unilateral or bilateral renal hypodysplasia. Eighty-one patients were affected by bilateral nonobstructive renal hypodysplasia; of these, 61 were without vesicoureteral reflux. Eighty-four patients presented with unilateral nonobstructive renal hypodysplasia, including 24 patients with unilateral multicystic dysplastic kidneys. Family history was positive in 11%. RESULTS: Mutation analysis showed 2 heterozygous mutations not observed in 200 race-matched control chromosomes. In only 1 family was distribution of the UPIIIA mutation consistent with a disease-causing effect. This de novo missense mutation (Gly202Asp) was identified in a patient with unilateral multicystic dysplastic kidneys. The second (intronically located) mutation appeared unlikely to be disease causing because it did not segregate with an obvious disease phenotype in the affected family. CONCLUSION: Our results indicate that de novo mutations in UPIIIA can be involved in defective early kidney development, but probably constitute only a rare cause of human renal hypodysplasia in a minor subset of individuals.

[Posterior urethral valves, unilateral vesicoureteral reflux and renal dysplasia (VURD syndrome). Long-term follow-up of kidney function]. / Válvulas de uretra posterior, reflujo vesicoureteral unilateral y displasia renal (síndrome VURD). Seguimiento de la función renal a largo plazo.

Posterior urethral valves, unilateral vesicoureteral reflux and renal dysplasia (VURD syndrome) is an infrequent entity in childhood that has provoked multiple controversies. The shortage of studies that evaluate the long-term outcome in these children prompted up to write the present article. Three patients that met strict criteria for a diagnosis of VURD syndrome were retrospectively reviewed, with special emphasis on several indicators of renal function in these patients at diagnosis and in adulthood. The three patients currently have normal renal function, unlike a large percentage of patients diagnosed with posterior urethral valves with vesicoureteral bilateral reflux. Although the sample is small, our results support the hypothesis of good long-term renal function in affected children.

Outcomes of Pyeloplasty in Very Poorly Functioning Kidneys: Examining the Myths.

OBJECTIVE: To assess the perioperative complications and functional midterm outcomes after pyeloplasty for poorly functioning kidneys due to ureteropelvic junction obstruction. PATIENTS AND METHODS: We retrospectively analyzed patients who underwent pyeloplasty for primary ureteropelvic junction obstruction in very poorly functioning kidneys in terms of split renal function of ≤20% or estimated glomerular filteration rate of ≤20 mL/minute. Perioperative complications and postoperative outcomes in terms of symptomatic improvement and functional stabilization or recovery were assessed. RESULTS: A total of 32 patients with estimated glomerular filteration rate ≤20 mL/minute or split function ≤20% underwent pyeloplasty since January 2010. All patients were followed for a mean period of 26.8 months and none required reintervention for obstructive drainage, deteriorating function, or intractable pain. One patient had persistent pain requiring analgesics and overall success rate (defined as nonobstructive pattern, no deterioration in split function, and no persistent symptoms) was 93.7%. Thirteen patients (40.6%) showed significant improvement in renal function (>5% over preoperative), and in all except 1 (3.1%) case there was no further deterioration of function. CONCLUSION: Pyeloplasty provides high rates of morphological and functional success even in very poorly functioning renal units. There is a possibility of functional recovery in one-third of patients, and in most of the rest, there is no further deterioration.

[Conservative management of multicystic dysplastic kidney: clinical course and ultrasound outcome]. / Tratamento conservador do rim displásico multicístico: curso clínico e ultra-sonográfico.

OBJECTIVE: The aim of this study was to describe the clinical course and ultrasound outcome of prenatally detected multicystic dysplastic kidney. METHODS: Fifty-three children with unilateral multicystic dysplastic kidney detected by prenatal ultrasound between 1989 and 2004 were included in the analysis. All children were submitted to conservative management with follow-up visits every six months. Follow-up ultrasound examinations were performed at six-month intervals during the first two years of life and yearly thereafter. The following clinical parameters were evaluated: blood pressure, urinary tract infection, renal function, and growth. The following ultrasound parameters were evaluated: involution of multicystic dysplastic kidney and contralateral renal growth. RESULTS: The mean follow-up time was 68 months. Two children presented hypertension during follow-up and five had urinary tract infection (only one with recurrent episodes). There was no malignant degeneration of multicystic dysplastic kidney. A total of 334 ultrasound scans were analyzed. US scan demonstrated involution of the multicystic dysplastic kidney in 48 (90%) cases, including complete involution in nine (17%). The involution rate was faster in the first 30 months of life. There was progressive compensatory renal hypertrophy of the contralateral renal unit; the rate of growth was greater in the first 24 months of life. CONCLUSION: The results of prolonged follow-up of children with conservatively managed multicystic dysplastic kidney suggest that clinical approach is safe, the incidence of complications is small, and that there is a clear tendency for multicystic dysplastic kidney to decrease in size. Our data also suggest that the involution rate of multicystic dysplastic kidney as well as the growth of the contralateral kidney is greater in the first 24 months of life.

MCDK not excluded by virtue of function on renal scan.

INTRODUCTION: The conservative management of multicystic dysplastic kidneys (MCDK) has been very successful, largely due to advances in diagnostic imaging. Classically, MCDK is described as a non-functioning cystic renal mass. However, we noticed that the increasing sensitivity of renal scans is able to demonstrate function in MCDK that previously would not have been detected. METHODS: We describe eight cases of MCDK with elements of function on renal scan, and their follow up. RESULTS AND CONCLUSIONS: One half (4/8) of these children underwent nephrectomy, and histology was consistent with MCDK. The remaining 4/8 were successfully followed to radiographic involution, without any complications. Therefore, we believe that minimal function on nuclear scintigraphy does not preclude the diagnosis of MCDK, and is yet another adjustment in our understanding of this entity.

Follow-up of unilateral multicystic kidney dysplasia after prenatal diagnosis.

OBJECTIVES: Since the introduction of antenatal diagnostic screening, multicystic kidney dysplasia (MCKD) has been diagnosed in 1 of 4300 live births. We analyze our own experience and demonstrate a management regime based on these results and existing studies. METHODS: Retrospective data analysis was carried out in 110 patients, prenatally diagnosed with MCDK. A total of 93 patients with confirmed diagnosis of unilateral MCDK were born alive and followed up in our institutions. RESULTS: A total of 110 unilateral cystic kidneys were prenatally diagnosed; 93 were confirmed postnatally. These children were retrospectively allocated to two treatment groups: 51 were operated upon; 42 were treated conservatively. A micturition cystourethrogram was performed 88 times, yielding 20 pathological findings. Vesicoureteral reflux was identified 11 times (12.5%). Eleven children (12%) had associated non-urological abnormalities. Cardiac and musculoskeletal malformations predominated. After 1995, nephrectomy was performed only when clinically indicated. Thirty-seven children were treated conservatively for between 4 months and 6 years (mean 33 months); 28 dysplastic kidneys exhibited size reduction. Complete involution was noted in 16 of 28 children between 7 and 29 months (mean 16.2 months). CONCLUSION: This study provides evidence that neonatal nephrectomy of unilateral MCDK is rarely required. It also shows that the discussed malformation is not an isolated developmental abnormality. In a high proportion, associated urogenital abnormalities were present and therapeutically relevant, and determined the overall prognosis.

Epidermal nevus syndrome and dysplatic kidney disease.

Epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. Multicystic kidney disease has been very rarely reported in this syndrome. Here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with Wilms' tumor. According to this association, it is suggested to search for dysplastic kidney disease in patients with neurocutaneous disorders.