Ectopia

OBJECTIVE: To evaluate the safety and efficacy of capsular tension ring and capsular hook (CTR-CH) implantation in Marfan syndrome (MFS) patients with ectopia lentis (EL). SETTING: Eye and ENT Hospital of Fudan University. DESIGN: Retrospective propensity-score matched cohort study. METHODS: This study included MFS patients who had in-the-bag intraocular lens (IOL) implantation assisted by CTR-CH or modified capsular tension ring (MCTR)...

A 2-year-old male child presented to us with absent left testis in scrotum since birth. Parents noted a pinkish white globular mass in medial aspect of left thigh. At the time of presentation (2 years old) he had a 2 x 2 cm, firm, subcutaneous swelling located on the medial aspect of the left thigh. Ultrasonography was suggestive of left ectopic testis of size 1 x 1.2cm in the femoral region. Orchidopexy was done. In our case the term scrotoschisis will not be appropriate as testicular extrusion has occurred through femoral region and not the scrotum...

BACKGROUND: The ectopic pelvic kidney, a common renal anomaly, is often smaller and malformed, with a shorter and sometimes tortuous ureter (1). Muscle-invasive bladder cancer (MIBC), constituting 15-25% of bladder cancer cases (2), mandates radical cystectomy with a 50% 5-year survival rate (2). Despite the growing use of robot-assisted radical cystectomy (RARC) (3, 4), there is limited data on its application in ectopic kidneys. Only one RARC case has been reported (5), in contrast to numerous open radical cystectomies (1, 6) involving an ectopic kidney...

PURPOSE OF REVIEW: This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management. RECENT FINDINGS: The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS...

PURPOSE: To describe the biometric and corneal characteristics of patients with Marfan Syndrome (MFS) and ectopia lentis. STUDY DESIGN: Observational, descriptive, prospective study. Subjects Individuals with MFS with ectopia lentis (EL). METHODS: Fourty-four eyes of 23 patients underwent Scheimpflug analysis using the Pentacam (Oculus, Wetzlar, Germany), axial length (AL) using the IOL master 700 (Carl Zeiss AG, Oberkochen, Germany), endothelial cell count (ECC) using the CEM-350 (NIDEK, Maihama, Japan) and corneal biomechanics evaluation with the Ocular Response Analyzer: ORA (Reichert Ophthalmic Instruments, Buffalo, New York, USA) and Corvis (Oculus, Wetzlar, Germany)...

INTRODUCTION: Ectopic adrenocortical tissue is defined as the presence of accessory adrenal cortex tissue outside the suprarenal location of the adrenal glands. It is not an infrequent finding during inguinal operations in infants, however, its incidence in adults is found to be less than 1 %. CASE: We report a case of ectopic adrenal tissue incidentally found in a cord lipoma of a 68-year-old man, presenting for elective inguinal hernia repair. CLINICAL DISCUSSION: In the literature, the majority of cases of ectopic adrenocortical tissue are reported during groin surgeries in children...

BACKGROUND AND PURPOSE: Peripherally inserted central catheter (PICC) used in neurosurgical patients requires changes in patients' head positions. However, such changes can worsen pressure on the brain tissue, lead to sudden acute brain herniation and respiratory arrest, resulting in a higher chance of patient death. This paper addresses the aforementioned problems by introducing a new PICC catheterization method. METHOD: In a retrospective study, the records of patients with PICC from April 2020 to April 2023 were reviewed, and they were divided into three groups based on the methods employed...

BACKGROUND: Congenital ectopia lentis (CEL) is a hereditary eye disease which severely impacts preschool children's visual function and development. This study aimed to evaluate the longitudinal changes in spherical equivalent (SE) refractive error in preschool children with CEL. METHODS: A retrospective cohort study was conducted at Zhongshan Ophthalmic Center, Guangzhou, China. Medical records of CEL patients under 6-year-old who were diagnosed with Marfan syndrome at the initial visit from January 2014 to March 2022 were collected and were divided into surgery and non-surgery groups...

Crossed fused renal ectopia (CFRE) constitutes a rare congenital anomaly of the urinary tract, typically characterized by its predominantly asymptomatic nature and frequent incidental discovery. This case report delineates the clinical profile of a 56-year-old male admitted to our Prostate Cancer Outpatient Clinic due to elevated prostate-specific antigen (PSA) levels, ultimately leading to the diagnosis of prostate cancer. The patient was asymptomatic, with no family or surgical background. Notably, a fused ectopic kidney was incidentally identified during the staging process involving abdominal computed tomography (ACT) scanning...

UNLABELLED: Klippel-Feil syndrome is a rare congenital bone disorder characterised by a triad of short neck, low posterior hairline and limited lateral bending of the neck with an annual incidence of 1 in 40,000 live births. It has remained an obscure term in the medical literature because of its variability in presentation and wide spectrum of anomalies involving multiple organ systems. It is unusual to find a case that has all three classical triad features. Here, we present a case of a 9-month-old infant who manifests not only all three classical triad features associated with Klippel-Feil syndrome but also demonstrates the presence of congenital heart disease, scoliosis, and renal ectopia...

OBJECTIVE: The aim of the study was to determine receiver operating characteristics (ROC) of computed tomographic excretory urography (CTEU) in predicting cystoscopic findings of ureteral anatomy. STUDY DESIGN: Retrospective cohort study. ANIMALS: Thirty-five client-owned dogs. METHODS: The medical records of dogs referred for suspected ectopic ureters were reviewed. Inclusion criteria included CTEU findings reported by board-certified radiologists, followed by rigid cystoscopy with or without ureteral cystoscopic laser ablation (CLA)...

INTRODUCTION AND IMPORTANCE: Crossed fused renal ectopia is one of the rare congenital anomalies in which a kidney is found on the side opposite to its normal anatomical location and is fused with the contralateral kidney. Most patients are asymptomatic and diagnosed incidentally. CASE PRESENTATION: In this case report we present a 60 year old woman diagnosed with a left to right crossed fused renal ectopia with fusion of the left kidney to the inferior pole of the right kidney...

INTRODUCTION: Wilms tumor is the most common renal malignancy in children. The occurrence of Wilms tumor with various congenital genitourinary anomalies has been reported, particularly in horseshoe kidneys, hypospadias, disorder of sexual development, and double collecting system. However, Wilms tumor with crossed renal ectopia is a rare finding. CASE DESCRIPTION: We are reporting a case report of Wilms tumor in a 3-year-old girl who presented with a huge left flank mass with cross-fused renal ectopia...

BACKGROUND: Rectal prolapse is a relatively common, usually self-limiting illness in children. Peak incidence is between 1 and 3 years. The primary treatment of rectal prolapse is non-operative. Surgical intervention is needed in long-standing intractable cases of rectal prolapse, rectal pain/bleeding/ulceration and prolapse that needs frequent manual or difficult reduction. The aim of this study was to compare the efficacy and outcome of laparoscopic ventral mesh rectopexy versus laparoscopic suture rectopexy in the management of persistent rectal prolapse in children not responding to conservative management and/or recurrent after sclerotherapy or anal encirclement...

AIM: To evaluate the effect of lens surgery on health-related quality of life (HRQoL) of preschool children with congenital ectopia lentis (CEL). METHODS: A prospective self-controlled study was conducted in Zhongshan Ophthalmic Center. Children aged from 5 to 7y whom were diagnosed with CEL and underwent phacoemulsification with scleral-fixated posterior chamber intraocular lens implantation and their parents were enrolled in this study. All of them completed the child and proxy (parental) PedsQL™ 4...

BACKGROUND: Marfan syndrome (MFS), caused by pathogenic variants of FBN1 (fibrillin-1), is a systemic connective tissue disorder with variable phenotypes and treatment responsiveness depending on the variant. However, a significant number of individuals with MFS remain genetically unexplained. In this study, we report novel pathogenic intronic variants in FBN1 in two unrelated families with MFS. METHODS: We evaluated subjects with suspected MFS from two unrelated families using Sanger sequencing or multiplex ligation-dependent probe amplification of FBN1 and/or panel-based next-generation sequencing...

Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion...

PURPOSE: To extend the mutation spectrum and explore the characteristics of genotypes and ocular phenotypes in ectopia lentis (EL). METHODS: Variants in all 14 reported EL-associated genes were selected from in-house data sets as well as literature review, and available clinical data were analyzed. RESULTS: Likely pathogenic variants in three genes were identified in 156 unrelated families with EL from the in-house cohort, of which 97.4% resulted from variants in FBN1, whereas the remaining were caused by variants in ADAMTSL4 (1...

INTRODUCTION: A pyelovesicostomy is a rare procedure that offers an alternative to difficult pyeloplasty or failed pyeloplasty in the case of PUJO of pelvic renal ectopia. In this case report, we utilized pyelovesicostomy for a dilated renal pelvis of a crossed fused ectopic pelvic kidney with a single ureter. CASE PRESENTATION: This is a 19-year-old male patient who received a diagnosis of pelvic ectopic kidney disease of 4 years duration. He was on a periodic DJ-stent exchange every 3 months at a different hospital...

Ectopia cordis is a rare condition with expected low survival rate based on past studies. We encountered a case of a preterm and low birth weight infant with ectopia cordis. When the infant cried, the prolapse of the heart, liver, and intestinal tract worsened. A pressure-applying protector was used to protect the organs and reduce the prolapse. Upon application, the infant's tachypnea and desaturation worsened. Fluoroscopic examination suggested that the pressure from the prolapsed regions was impeding pulmonary expansion and negatively affecting circulation...