Distal ureteral atresia – an embryological dilemma

Introduction: Distal ureteral atresia is a rare urinary tract anomaly generally associated with ipsilateral renal dysplasia and abnormalities such as multicystic dysplastic kidney, hydronephrosis and megaureter in the contralateral kidney. Despite burgeoning investigation modalities, definitive preoperative diagnosis of this condition is rarely feasible, also the embryological disarray of events that result in the development of this anomaly and the associated malformations is not clearly understood. Case presentation: We hereby report two cases of distal ureteral atresia and discuss the diversity in their presentations, diagnosis, atypical associations and management and review the possible embryological mal-development. Conclusion: Distal ureteral atresia with urogenital sinus as in Case 1 has not been documented so far and a plausible embryological explanation is deduced regarding its occurrence. The course of the affected kidney following timely and adequate relief of obstruction in Case 2 is depicted, highlighting the eventual management. Level of evidence: Not applicable

A New Case of Herlyn–Werner–Wunderlich Syndrome: Uterine Didelphys with Unilateral Cervical Dysgenesis, Vaginal Agenesis, Cervical Distal Ureteral Remnant Fistula, Ureterocele, and Renal Agenesis in a Patient with Contralateral Multicystic Dysplastic Kidney

The aim of this study was to present a new case of congenital Herlyn–Werner–Wunderlich syndrome, a rare anomaly of the female reproductive tract, and review the related literature. A 12-year-old girl presented with severe dysmenorrhea since menarche and magnetic resonance imaging showing a bicornuate uterus, double cervix, right hematometra, and hematosalpinx with ipsilateral renal agenesis, accompanied by a remnant distal ureter with hydroureter. A diagnostic cystoscopy and a reduced-port robot-assisted laparoscopy with chromopertubation were performed in order to identify the anomaly. Uterine didelphys and right cervical dysgenesis with ipsilateral vaginal agenesis, cervical distal ureteral remnant fistula, ureterocele, and renal agenesis were diagnosed on the basis of histopathologic findings, and she subsequently underwent a robotic unilateral right total hysterectomy with salpingectomy. This case report reinforces the importance of the intraoperative biopsy for an accurate diagnosis, despite magnetic resonance imaging being considered the gold-standard diagnostic tool.

Case Report: Uterine Anomalies in Girls With a Congenital Solitary Functioning Kidney

Unilateral renal agenesis and multicystic dysplastic kidney, resulting in a contralateral solitary functioning kidney (SFK), are part of the broad spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). In girls with SFK, screening for asymptomatic Müllerian anomalies of uterus and vagina is not yet routinely performed, and therefore often overlooked until clinical complications in the menstrual cycle or fertility process occur. In this case series, we report on four teenagers with congenital SFK presenting with menstrual problems due to a Müllerian anomaly. Routine peri-menarchal screening for Müllerian anomalies in girls with SFK may provide timely counseling, surgical treatment and prevention of associated complications such as endometriosis, infertility and miscarriages.

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. We report one of the first cases diagnosed after termination of pregnancy at 35 WG, including antenatal and post-mortem imaging, complete autopsy and genetic analysis. Prenatal ultrasound and MRI of the third trimester showed multifocal spinal lesions and left lateral cerebral ventriculomegaly with cerebral atrophy. Diagnosis of ECCL was suggested at complete autopsy which revealed nevus psiloliparus of the scalp, facial hamartomas and intracranial and spinal lipomas. In addition, our case also exhibited a cardiac rhabdomyoma and a multicystic dysplastic kidney, both never reported to date in this syndrome. ECCL was confirmed by the identification of a postzygotic FGFR1 mutation. We reviewed the literature and discuss the pathogenesis of this syndrome.

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were evaluated for their phenotypic features, and cardiac and renal findings. The mean age of patients at admission was 10.08 ± 4.9 years (range, newborn to 18 years). Four different karyotype groups were encountered, and the most common findings in all groups were short stature, followed by cubitus valgus. Echocardiographic findings of 85 patients were available among which 63 (<i>n</i> = 63/85, 74.1%) were found to be normal. The most common cardiac anomaly was left ventricular outflow tract/aortic arch pathology detected in 9 patients (<i>n</i> = 9/22, 40.9%). Renal malformations were detected in 15 patients (<i>n</i> = 15/84, 17.9%) by renal ultrasonography, and horseshoe kidney was the most common renal malformation, followed by left multicystic dysplastic kidney. There was no significant difference in the frequency of renal malformation and cardiac anomalies among the 4different karyotype groups (χ² exact test, <i>p</i> &#x3e; 0.05). Compared with the literature, the frequency of renal anomalies was detected at a lower rate. Karyotype analysis should be carried out in all female patients with short stature, even if there are no associated phenotypic findings suggestive of TS. Since cardiac anomalies are frequently seen in TS patients and they represent a common cause of mortality, echocardiography should be carried out as soon as the definite diagnosis is established. Renal anomalies may be less frequent than cardiac anomalies; however, evaluation of TS patients with renal ultrasonography should be done at the time of diagnosis. Although renal ultrasonography can be used as the initial renal screening in TS patients, it may underestimate the frequency of renal malformation; hence, further management may be required.