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Renal ectopia is a rare congenital anomaly that mostly occurs in the pelvic area. An ectopic kidney is usually associated with other anomalies such as a malrotation. We report the case of a 15-year-old male who consulted after a blunt abdominal trauma. A left iliac renal ectopia was incidentally discovered. This ectopic kidney was associated with a malrotation, and a pyelo-ureteral duplication. Iliac renal ectopia should be dissociated from other abdominal renal ectopias, and its association with other renal malformations should be further investigated.

OBJECTIVE To analyze the trends and outcomes of retrograde intrarenal surgery for treatment of urolithiasis in anomalous kidneys in a large international multicenter series. MATERIALS AND METHODS We designed a multicentric retrospective study. Nineteen high-volume centers worldwide were included. Pre-, peri- and postoperative data were collected, and a subgroup analysis was performed according to renal anomaly. RESULTS We analyzed 414 procedures: 119 (28.7%) were horseshoe kidneys, 102 (24.6%) pelvic ectopic kidneys, 69 (16.7%) malrotated kidneys and 50 (12.1%) diverticular calculus. The average size (SD) of the stone was 13.9 (+/- 6) millimeters and 193 (46.6%) patients had a pre-operative stent. In 249 cases (60.1%) a disposable scope was used. A UAS (ureteral access sheath) was used in 373 (90%) patients. A Holmium laser was used in 391 (94.4%) patients. The average (SD) operating time was 65.3 (+/- 24.2) minutes. Hematuria, caliceal perforation and difficulty in stone localisation were mostly seen in diverticular stones and difficulty in UAS placement and lithotripsy in the cases of renal malrotation. The overall complication rate was 12%. Global stone-free rate was 79.2%. Residual fragments (RF) were significantly lesser in the pre-stented group (P

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

This report suggests that laparoscopic single-site pyeloplasty of uteropelvic junction obstruction associated with horseshoe kidney is feasible, safe, and effective in select patients., Background and Objective: Pyeloplasty in horseshoe kidneys can be challenging due to aberrant vasculature, renal malrotation, and ectopic location. Fewer than 20 cases of minimally invasive (MIS) pyeloplasty in horseshoe kidneys have been reported in the literature to date. We herein report the first 2 cases of laparoendoscopic single-site (LESS) pyeloplasty for UPJ obstruction in horseshoe kidneys. Methods: Two patients with symptomatic ureteropelvic junction obstruction in horseshoe kidneys were treated with an Anderson-Hynes LESS pyeloplasty. This was performed using three 5-mm trocars through a single umbilical incision, plus an accessory 3-mm port at the anterior axillary line to facilitate suturing and subsequent drain placement. Results: Both patients had BMI

► We consider a case of laparoscopic aortic lymphadenectomy for an early ovarian cancer including a comprehensive surgical staging. ► The patient was found to have a congenital anatomic abnormality: a right renal malrotation with an accessory renal artery. ► We used a preoperative CT angiography study to diagnose such anatomical variations and to adequate the proper surgical technique.

Renal malrotation along the horizontal plane with the long axis of the kidney in the vertical plane can be classified according to an anomalous rotation of the embryologic kidney during ascent. However, renal malrotation along the sagittal plane with the long axis of the kidney in the horizontal plane cannot be explained embryologically and had only been previously reported in one case. Here we report two cases of renal malrotation with the long axis of the kidney in the horizontal plane. Case 1 was a 43-year-old woman with acute pyelonephritis. Right unilateral malrotated kidney was accidentally found in abdominal CT scan and she recovered uneventfully. Case 2 was a 63-year-old diabetic woman with atrial fibrillation, cerebral hemorrhage, sepsis, acute respiratory failure, acute renal failure and right renal infarction. Right unilateral malrotated kidney was accidentally found in abdominal CT scan and she expired within a few days. Thus, these two patients were the 2nd and the 3rd cases of sagittally malrotated kidneys worldwide.

Renal vascular deformity (RVD) happens during the embryonic period when kidneys ascend into the lumber region. However, the exact etiology of this deformity remains unknown. RVD is not a rare congenital anomaly in urology as many cases with vascular deformity have been reported.However, no case has been reported with unilateral kidney almost in the normal position, but with several different branches of ectopic arteries—one even receiving the arterial supply from the contralateral iliac artery—and ectopic veins, one of which forms a collateral circulation with the portal vein. Moreover, it is quite interesting that this case of RVD is combined with another abnormality—duplex pelvis and renal malrotation. We will present this extremely rare case of multiple malformation of the right renal vascular deformity combined with duplex pelvis and malrotation.

An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic gonadectomy, a left dysgerminoma was removed. This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population.

A 71-year-old woman was admitted complaining of left flank pain, and presented with oliguria and hypotension. Pyuria and severe sepsis led to the diagnosis of acute pyelonephritis. An abdominal computed tomography intravenous pyelogram revealed normal-sized kidneys, however, the differentiation between cortex and medulla was poorly determined. The left kidney showed an amorphic, low attenuation lesion that was consistent with acute pyelonephritis (Fig. 1A). Both kidneys were incompletely malrotated and anteriorly facing hila were observed. The renal vessels and ureter were located laterally. The right kidney was 5 cm lower than the left kidney, indicating renal ectopia. Mild dilation was found at the proximal ureter of the left kidney. Additionally, a three-dimensional computed tomography reconstruction image showed anteriorly rotated kidneys (Fig. 1B). The patient initially received piperacillin-tazobactam empirically, then switched to cefotaxime after detecting an E. coli infection in the bloodstream. Three days later, her hemodynamic state had improved, and she was released from the intensive care unit.

Helical CT angiography is increasingly used for the evaluation of the kidneys and the renal vessels. Knowledge of the potential variants in renal and renal vascular anatomy and of their appearances on helical CT are thus indispensable for radiologists who perform and interpret such examinations. We report six cases of anatomic variants that we encountered in our tertiary referral centre over the past 5 years, during which time we have performed 4850 helical CT angiograms, including 1432 renal artery examinations. These represent rarer anomalies in renal vascularization, most of which were associated with renal malformations (horseshoe kidney with or without cortical torsion, renal malrotation, single kidney, and thoracic origin of a renal artery). We present the helical CT findings and discuss the possible embryological mechanisms and the practical implications of these abnormalities for the radiologist.

The need for contrast imaging of the ureter before routine pediatric pyeloplasty is controversial. We evaluated the use of antegrade pyelography for upper tract imaging before pyeloplasty via dorsal lumbar incision.The records of all patients who underwent pyeloplasty from April 1994 through April 1998 at our institution were reviewed. The findings and outcome of patients with presumed ureteropelvic junction obstruction in whom antegrade pyelography was performed under the same anesthetic were assessed, and those in whom this procedure changed the planned operative approach were identified.Antegrade pyelography was performed without complication in 72 patients before planned pyeloplasty and 2 attempts were unsuccessful. In 10 cases (14%) plans for dorsal lumbar incision were abandoned based on findings of renal malrotation in 3, ureteral stricture in 2, ureterovesical junction obstruction in 2, unusually low or high position of the ureteropelvic junction in 1 each, and concurrent ureteropelvic and ureterovesical junction obstruction in 1. The study was misinterpreted in 1 case of renal malrotation and 1 case of horseshoe kidney, and the dorsal approach was used. In 1 of these cases conversion to an anterior approach was required. A nonobstructing ureterovesical junction was seen in 2 other patients who had ureteropelvic junction obstruction with mild ureteral dilatation on ultrasound.The dorsal lumbar incision may provide inadequate exposure in certain patients with upper tract obstruction. Antegrade pyelography is a simple, safe and useful technique to visualize the collecting system before planned pyeloplasty via dorsal lumbar incision, allowing the surgeon to choose a more suitable operative approach or procedure when warranted.

Anomalous or faulty rotation of the kidney, a term applied to congenital variation in position, is seldom the cause in itself of renal functional disturbance.1However, in conjunction with intrinsic deformities of renal mass, such as horseshoe kidney, or with some of the common anatomic aberrations of vascular supply,2acute or chronic interference with renal function may occur.3Similarly, renal torsion, an acquired malrotation, such as results from growth of a retroperitoneal tumor, may impair function of the kidney. These rotational anomalies are clinically distinct from abnormal renal mobility for which nephropexy is advocated to relieve Dietl's crises4associated with mechanical obstruction.5 The renal pelvis faces anteriorly at the end of the first month of embryonic life. In the sixth week, the kidney derives blood supply from the adjacent area of the aorta, which will eventually be the aortic bifurcation. New arteries are acquired stepwise