Incidental Discovery of Klippel-Feil Syndrome: Beyond the Expected Clinical Triad.

Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, limiting neck mobility, and often presenting with clinical manifestations such as neck pain, stiffness, and neurological deficits. While the classical presentation of KFS includes a "clinical triad" comprising a shortened neck, a low posterior hairline, and limited cervical motion, not all patients exhibit all three features. This case report presents an 81-year-old male with the complete KFS triad and underscores the diagnostic challenges and management strategies associated with this condition. Despite the rarity of KFS, understanding it is crucial for clinicians due to its profound implications on patient management and quality of life. This case emphasizes the importance of clinical suspicion in Internal Medicine, showcasing how an isolated presentation may often be a manifestation of an underlying congenital condition.

Zinner syndrome in pediatric age group: An underdiagnosed entity.

INTRODUCTION: Zinner Syndrome (ZS), a rare congenital malformation of the mesonephric duct, combines seminal vesicle cyst (SVC) with ipsilateral upper urinary tract abnormalities. Typically asymptomatic in childhood, ZS manifests between 2nd to 4th decades with bladder symptoms, perineal pain and infertility. Diagnostic confirmation with additional imaging is needed when either renal or seminal abnormalities are identified. MATERIALS AND METHODS: A retrospective study spanning 22 years identified 20 pediatric ZS cases through clinical analytics. Demographic, clinical, and radiological data were analyzed, including presenting complaints, imaging modalities (ultrasound, CT, MRI), and surgical findings. The study was HIPAA-compliant and IRB-approved. RESULTS: Among 20 cases (mean age: 7.3 years), clinical presentations included asymptomatic cases, urinary symptoms, and abdominal pain. Imaging revealed renal anomalies (agenesis, multicystic dysplastic kidney) and seminal vesicle abnormalities. Surgical interventions (n = 12) addressed symptomatic cases, often involving robotic or laparoscopic procedures. DISCUSSION: ZS, though rare, presents with varied clinical features, necessitating a multidisciplinary approach. Early diagnosis is facilitated by prenatal identification of renal abnormalities. Surgical intervention is reserved for symptomatic cases, with techniques such as vesiculectomy and resection of remnant structures employed. CONCLUSION: This study highlights ZS's diverse clinical and radiological spectrum, emphasizing the need for vigilance in detecting overlapping entities. Timely identification, utilizing advanced imaging techniques, is crucial for accurate diagnosis and appropriate management of Zinner Syndrome in the pediatric population.

Zinner syndrome: a radiological journey through a little known condition.

Zinner syndrome is a rare congenital urological entity, secondary to an alteration in embryogenesis between 4th and 13th weeks of gestation, specifically because of abnormalities in the development of the distal mesonephric duct. It is characterized by the triad of unilateral renal agenesis, cystic dilatation of the ipsilateral seminal vesicle and ipsilateral ejaculatory duct obstruction. The aim of this article is to provide the reader with all the necessary information to be able to suspect the presence of this syndrome, reviewing its physiopathology, clinical manifestations and the imaging techniques that enable its diagnosis, emphasizing those radiological findings by MRI that should lead us to think about it. This work is illustrated with representative radiological images of cases belonging to our institution, including patients with different variants of Zinner syndrome. We also include an overview of the embryology of the male urogenital system, to remember the role of the mesonephric duct and the ureteral bud in the formation of the different urogenital structures, as well as a differential diagnosis that allows us to differentiate seminal vesicle cysts from other pelvic cystic lesions.

Zinner Syndrome in Young Adult Males: A Case Series and Literature Review.

Zinner syndrome (ZS) is a highly uncommon congenital or developmental urogenital anomaly characterized by the triumvirate of unilateral renal agenesis or dysplasia, ipsilateral ejaculatory duct obstruction, and ipsilateral seminal vesicle cyst. We present three cases of ZS in a 21-year-old male, a 20-year-old male, and a 24-year-old male. The diagnostic evaluation revealed unilateral renal agenesis associated with hypertrophy of the ipsilateral seminal vesicle with cystic changes on investigation by ultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI). The patients underwent surgical management, resulting in symptom resolution and enhanced quality of life. This case report highlights the diagnostic challenges, management options, and long-term outcomes for patients with ZS.

Applicability and Suitability of the Embryological-Clinical Classification of Female Genital Malformations: A Systematic Review.

Complex urogenital malformations are clinically highly relevant; thus, they must be appropriately diagnosed and classified before initiating treatment. Background/Objectives: This study aimed to evaluate the applicability and suitability of the embryological-clinical classification of female genital malformations. Methods: A systematic review of cases of genital malformations reported in the literature from 2000 to 2020 was conducted. Case reports and series with the following combinations: "female genital tract" AND (malformation OR anomaly OR müllerian anomaly OR uterine anomaly OR cervical anomaly OR vaginal anomaly OR cloacal anomaly OR urogenital sinus); and "female genital tract" AND (renal agenesis OR ectopic ureter) were searched. A total of 3124 articles were identified, of which 824 cases of genital malformation were extracted. The characteristics of each malformation were included in a database for further analyses. Results: Using the embryological-clinical classification, 89.9% of the published cases and 86.5% of the 52 cases defined as unclassifiable by their authors have been classified in this review. In 73 cases (72.2%), the classification of the malformation using the AFS system was incomplete because although the type of uterine anomaly of the AFS classification matched that of the embryological-clinical classification, characteristics of the urinary system or the vagina were overlooked when using the AFS system. Following a dispersion matrix, we have been able to show that the embryological-clinical classification system is able to classify and subclassify the genitourinary malformations more accurately. Conclusions: The applicability of the embryological-clinical classification has been confirmed after classifying most of the cases of genital malformation previously published. This system also provides a more complete and accurate classification than other classifying systems exclusively based on Müllerian duct development or uterovaginal parameters, demonstrating its suitability.

A rare case of obstructed hemivagina with uterus didelphys and ipsilateral renal anomaly syndrome.

Obstructed hemivagina and ipsilateral renal anomaly syndrome, also known as Herlyn-Werner-Wunderlich syndrome, represents a rare congenital anomaly characterized by the presence of an obstructed hemivagina with uterus didelphys and concomitant ipsilateral renal abnormalities. Typically, the clinical presentation includes cyclical abdominal pain, vaginal discharge, and/or a vaginal mass occurring post-menarche. Accurate diagnosis requires a high index of suspicion among clinicians, coupled with a comprehensive understanding of the distinctive features associated with this anomaly. Herein, we present the case of a 13-year-old female patient who complained of persistent lower abdominal pain. Magnetic resonance imaging confirmed the diagnosis of obstructed hemivagina and ipsilateral renal anomaly syndrome, and the patient was successfully treated with a laparotomy involving blood aspiration and hysterectomy. This case report highlights the significance of clinical awareness, prompt diagnosis, and timely therapeutic interventions to mitigate the adverse effects and optimize outcomes in individuals affected by obstructed hemivagina and ipsilateral renal anomaly syndrome.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research.

Early-onset severe ovarian endometriosis in adolescents with completely obstructed Müllerian anomalies accompanied by ipsilateral renal agenesis: two case reports.

Endometriosis is known to occur frequently in adolescents with obstructed Müllerian anomalies. Our cases emphasize that endometriosis can rapidly progress to a severe stage in obstructed hemivagina and ipsilateral renal anomaly syndrome, one of the completely obstructed Müllerian anomalies. The first patient was a 14-year-old girl who complained of cyclic abdominal pain. Imaging revealed a uterine didelphys with unilateral hematocolpos and a left adnexal endometrioma. The second, an 11-year-old girl, visited the hospital complaining of cyclic abdominal pain, had a unicornuate uterus with a functioning horn and left adnexal endometrioma. Also, both patients had unilateral renal agenesis. The surgery in both cases revealed Stage IV endometriosis. Adjuvant hormone therapy was administered for 1 year, and there was no recurrence until 3 years after surgery. We emphasize that patients diagnosed with renal agenesis should be screened to check for gynecological anomalies when menstrual cramps occur after menarche.

A case report on rare co-occurrence of invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis, and bicornuate uterus: is it a new triad?

BACKGROUND: Concomitant invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis and bicornuate uterus is a rare combination. Unilateral renal agenesis has been associated with genital anomalies, such as unicornuate and bicornuate uterus. Furthermore, a wealth of studies has reported the association between unicornuate uterus and ovarian anomalies, such as the absence of an ovary or ectopic ovaries, but rarely has there been a combination of the three to the best of our knowledge. The present case report is the first case presentation with a combination of the three syndromes: ovarian mucinous tumor, unilateral renal agenesis, and bicornuate uterus. CASE PRESENTATION: We report the case of a 17-year-old who presented with abdominal distension. On examination, a CT scan revealed a large multicystic abdominal mass on the right side, with an absence of the right kidney while the left kidney was normal in size, appearance, and position. Intraoperatively, massive blood-stained ascitic fluid was evacuated. Additionally, a large whitish polycystic intra-abdominal mass with mucus-like materials and solid areas was attached to the midpoint of the colon and the right ovary, with visible metastasis to the omentum. The uterus was bicornuate. The mass and omentum were taken for histopathology and a diagnosis of invasive ovarian mucinous cystadenocarcinoma with metastasis to the colon and omentum was made after a pathological report. CONCLUSIONS: The presence of these conditions in the same individual could potentially complicate medical management and fertility considerations. Thus, a need for a multidisciplinary medical team, including gynecologists, urologists, and oncologists, to address their unique needs and provide appropriate treatment and guidance. Further research and case studies are needed to better understand the possible association and implications of these rare co-occurring conditions.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.

BACKGROUND: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. CASE PRESENTATION: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. DISCUSSION AND CONCLUSIONS: Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

A variant of Zinner syndrome with ectopic ureteral insertion into the seminal vesicle.

Zinner syndrome comprises a triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction, which can be accompanied by additional abnormalities of the genitourinary tract in some cases. Patients may be asymptomatic or present with urinary, reproductive, and/or local pain symptoms. Diagnosis is most commonly achieved via MRI. Here, we present the case of an 18-year-old male previously diagnosed with unilateral renal agenesis, who presented with testicular and penile pain, along with urinary urgency and frequency. MRI of the abdomen and pelvis revealed all three components of Zinner syndrome as well as an ectopic ureter emptying into the seminal vesicle. Our case adds to the existing limited literature on this rare syndrome and broadens the understanding of how this syndrome can present both clinically and radiologically.

Single-Center Incidence and Patterns of Stroke in Early Renal Anhydramnios After Serial Amnioinfusions.

The Renal Anhydramnios Fetal Therapy (RAFT) trial is a study of serial amnioinfusions to prevent lethal neonatal pulmonary hypoplasia from early renal anhydramnios. Infant neurologic outcomes were not originally evaluated. We describe the high incidence of stroke observed among infants in the treatment arm of the trial at our center.

An Incidental Diagnosis of Herlyn-Werner-Wunderlich Syndrome in a Young Female: A Case Report of a Rare Entity.

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome, a rare genetic condition of the urogenital system, is characterized by distinctive features such as ipsilateral renal agenesis, obstructed hemivagina, and uterus didelphys. It is also referred to as Herlyn-Werner-Wunderlich (HWW) syndrome. Its clinical manifestations include dysmenorrhea, consistent abdominal pain, and infrequent periods. It is typically diagnosed after menarche. We report a case of a 20-year-old female who was admitted to the casualty ward following a road accident. She was Incidentally found to have uterine didelphys with hemorrhagic cystic lesion and left renal agenesis on ultrasonography (USG). She also had gallbladder stones, along with the findings mentioned above. Clinicians should exclude HWW syndrome in cases where uterine didelphys and unilateral renal agenesis coexist. Prompt identification and treatment of the condition can help avoid potential untoward pregnancy-related issues in the future.

Herlyn–Werner–Wünderlich syndrome: A case series / Síndrome de Herlyn-Werner-Wünderlich: una serie de casos

Introduction: Herlyn–Werner–Wünderlich syndrome is a uterine malformation characterized by uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. Clinical findings: The manifestation of the disease is widely diverse; it is usually diagnosed after menarche, with dysmenorrhea and abnormal uterine bleeding; it is also associated with infertility. Main diagnosis: Four clinical cases, their diagnosis are reported here. Therapeutic interventions and results: The treatment and results of these four patients are described here. Conclusion: When studying uterine malformation it is important to consider this rare disease to avoid possible complications and giving the patient a correct diagnose and treatment. The hysteroscopy resection of the longitudinal vaginal septum in those symptomatic patients with hematocolpos should be considered as a good option for treatment.(AU)

Introducción: El síndrome de Herlyn-Werner-Wünderlich es una malformación uterina que asocia útero didelfo, hemivagina obstruida total o parcialmente y agenesia renal ipsilateral. Hallazgos clínicos: La clínica que presenta este síndrome es muy diversa; se suele diagnosticar después de la menarquia cursando con dismenorrea y sangrado uterino anómalo; así mismo se asocia a infertilidad. Diagnósticos principales: Se presentan a continuación 4 casos clínicos, su diagnóstico y tratamiento mediante diversas técnicas. Intervenciones terapéuticas y resultados: Se describen en este manuscrito los tratamientos aplicados a estas pacientes y sus resultados. Conclusión: Ante el hallazgo de una malformación uterina es importante tener en cuenta esta entidad infrecuente, para evitar posibles complicaciones y proporcionar a la paciente un diagnóstico y tratamiento correctos. La resección histeroscópica del tabique vaginal longitudinal en aquellas pacientes sintomáticas con hematocolpos debe ser considerada como una buena opción de tratamiento.(AU)

Zinner syndrome in pediatric patients: rare disease leading to challenging management.

Introduction: Zinner syndrome (ZS) is the association of seminal vesicle cysts, ipsilateral ejaculatory duct obstruction, and ipsilateral renal agenesis. This condition is very rare in children and both diagnosis and treatment may be challenging. We reviewed the clinical presentation and treatment describing our experience with a series of three patients. Methods: From January 2016 to January 2021, three patients (patients 1, 2, and 3) with symptomatic ZS, aged 2, 15, and 17 years, respectively, were diagnosed and treated. All three patients were symptomatic, manifesting pelvic pain and dysuria. The diagnosis was made by physical examination, ultrasonography, and abdominopelvic MRI. Patient 1 underwent open surgery, while for patients 2 and 3, laparoscopic excision was performed. Results: The renal agenesis regarded the left side in patients 1 and 3, and the right side in patient 2. In all cases, the cystic complex was excised. The mean operating time was 4 h and the mean hospitalization time was 5 days (range 4-6 days). The mean follow-up period was 5 years (range 2-5 years). Patients 1 and 3 showed a complete resolution of the symptoms during postoperative follow-up. In patient 2, clinical symptoms relapsed because of the persistence of a 9 mm cyst requiring a redo laparoscopic excision. Conclusions: Seminal vesicle cyst with ipsilateral renal agenesis, even if rare in pediatric age, should be suspected in young male patients presenting with pelvic cystic masses, pelvic pain, dysuria, and ipsilateral renal absence. Conservative management should be reversed to asymptomatic patients. Surgical treatment is mandatory in symptomatic cases and the preferred approach is minimally invasive surgery to magnify the operating field to spare anatomical structures, primarily the contralateral vas deferens. Radicality is crucial to avoid the persistence of symptoms and the need for reintervention.

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings. CONCLUSION: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.

Case Series of Reproductive Outcomes after Surgical Correction of Obstructed Hemivagina in OHVIRA.

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) is a rare congenital developmental syndrome manifested by uterine duplication, lower genital tract obstruction, and unilateral renal anomaly. Literature on reproductive outcomes in this patient population is limited. The aim of this study is to describe obstetric outcomes after surgical correction of obstructed hemivagina in a longitudinal cohort of patients with a diagnosis of OHVIRA. All cases of OHVIRA presenting to a single tertiary care children's hospital from 1990 to 2021 were retrospectively reviewed. Three cases demonstrating a variety of clinically important reproductive outcomes are described in detail including risks such as retained products, endometritis, preterm labor, and malpresentation. Understanding the reproductive outcomes associated with this diagnosis is important for practitioners seeking to counsel and care for patients with this diagnosis. This case series demonstrates a wide array of potential gynecologic and obstetric risks, though ultimately with successful term and near-term pregnancies.

A renal aplasia case mimicking radiologically as unilateral renal agenesis in a child with spina bifida, atresia ani and unilateral undescended testis: a case report.

BACKGROUND: As a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis. CASE PRESENTATION: A 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining. Computerized Tomography (CT) scan of the abdomen and urography showed agenesis of the left kidney and a probable spina bifida. Cystourethrography examination was done and showed grade 5 voiding, then retrograde pyelography was performed with the diagnosis of unilateral renal agenesis was made because there was no visible left side collecting system even though there was a duplication in the left ureter. The next examination was carried out by histopathology and immunohistochemistry after resection of the left side of the ureter and the diagnosis increasingly pointed towards renal aplasia after primitive renal structures were found. CONCLUSIONS: Renal agenesis and aplastic kidney are difficult to differentiate macroscopically and radiologically. Nevertheless, from this case report, we try to provide some interesting points to differentiate cases of unilateral renal agenesis from Renal Dysplasia which presents as unilateral renal aplasia.

Müllerian anomalies in girls with congenital solitary kidney.

BACKGROUND: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. METHODS: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated. RESULTS: Congenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA. CONCLUSIONS: The prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis.