Congenital Abnormalities

先天性异常
  • 文章类型: Case Reports
    胆总管囊肿是一种先天性病理,具有罕见的异常,与腹部肿块和肝功能障碍的常见病有关。它可以在生命的任何阶段平等地呈现,无论是童年,青春期,或者成年期,并且主要通过超声检查(USG)发现肝胆系统的主要症状。它有一个经典的三合会,由腹部右侧上象限的肿块组成,腹部上部疼痛,和梗阻性黄疸.一些临床特征与镰状细胞病重叠。8年前,一名30岁的男性镰状细胞性贫血患者被诊断出。患者被诊断为胆总管囊肿,临床表现为腹痛,恶心,呕吐,这阻碍了他的日常生活。由于症状复发,患者接受了USG(腹部),显示胆总管扩张(CBD)和肝内胆管自由基扩张。这是一个罕见的病例,有镰状细胞病和胆总管囊肿,它们的症状相似。基于历史,风险因素分析,和诊断结果,建议患者进行Roux-en-Y肝空肠吻合术.内镜逆行胰胆管造影术(ERCP)和磁共振胰胆管造影术(MRCP)是首选的研究。最好是MRCP。ERCP是一种治疗和诊断方式,有助于去除CBD结石和放置支架。可能有胆红素升高,在酒精粪便中表现出阻塞性黄疸的特征。在外科管理中,这是囊肿的完全切除,附近有重要的结构。有这些投诉的患者需要彻底评估,并将进行详细的临床检查和适当的放射学检查。Roux-en-Y肝空肠吻合术与囊肿切除是首选方法。
    Choledochal cyst is a congenital pathology with an uncommon anomaly associated with common complaints of an abdominal lump and hepatic dysfunction. It may be presented equally in any phase of life, be it childhood, adolescence, or adulthood, and is majorly detected by ultrasonography (USG) on the appearance of primary symptoms in the hepato-biliary system. It has a classical triad consisting of a lump in the upper quadrant on the right side of the abdomen, pain in the upper part of the abdomen, and obstructive jaundice. A few of the clinical features overlap with sickle cell disease. A 30-year-old male patient with sickle cell anemia was diagnosed eight years ago. The patient was diagnosed with a choledochal cyst with the clinical presentation of abdominal pain, nausea, and vomiting, which hampered his routine life. Due to symptomatic recurrence, the patient was subjected to USG (abdomen), which showed a dilated common bile duct (CBD) and dilated intrahepatic biliary radicals. This is a rare case presentation with both sickle cell disease and choledochal cyst, which are symptomatically similar. Based on history, risk factor analysis, and diagnostic findings, the patient was advised to have a Roux-en-Y hepatico-jejunostomy. Endoscopic retrograde cholangiopancreatography (ERCP) and magnetic resonance cholangiopancreatography (MRCP) are the investigations of choice, with the better being MRCP. ERCP is a therapeutic and diagnostic modality that helps in the removal of CBD calculus and the placement of a stent. There may be increased bilirubin, showing features of obstructive jaundice in alcoholic stools. In surgical management, which is of total excision of the cyst, there are vital structures in proximity. The patients with these complaints need to be evaluated thoroughly, and detailed clinical examination and proper radiological investigations will be performed. Roux-en-Y hepatico-jejunostomy with cyst excision in toto is the procedure of choice.
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  • 文章类型: Journal Article
    背景:棕地由废弃和废弃的场地组成,跨越许多以前的目的。对于许多美国人来说,棕地代表了一种异质但无处不在的暴露,可能含有危险废物,代表城市疫病。新生儿和孕妇通常对微妙的环境暴露敏感。我们评估居民暴露于铅(Pb)棕地是否与出生缺陷有关。
    方法:使用2003年至2015年的北卡罗来纳州出生记录,我们对铅棕地10公里内的169,499名新生儿进行了采样,心血管疾病为3255人,中枢神经,或确定的外部缺陷。暴露按二元规范分类,即居住在Pb棕地3km内。我们利用从出生记录和2010年人口普查中获得的人口统计学协变量调整后的多变量逻辑回归模型来估计优势比(OR)和95%置信区间(CI)。通过对种族/民族和糖尿病状态的潜在修饰者包括相互作用项和分层来评估效果测量修改。
    结果:我们观察到心血管出生缺陷与居民靠近铅棕地之间存在正相关关系,或(95CI):1.15(1.04,1.26),提示中枢神经1.16(0.91,1.47)和外部缺陷1.19(0.88,1.59)。我们确实通过似然比检验(LRT)观察到中枢神经和外部缺陷组的种族/种族效应改变的证据(LRTp值0.08和0.02)。我们确实观察到心血管组的糖尿病状态的改变(LRTp值0.08)。
    结论:我们的分析结果表明,靠近铅棕地的居住区与心血管出生缺陷相关,提示与中枢神经和外部缺陷相关。对单个缺陷和其他污染物或棕地位点功能的深入分析可能会揭示其他新的关联。
    BACKGROUND: Brownfields consist of abandoned and disused sites, spanning many former purposes. Brownfields represent a heterogenous yet ubiquitous exposure for many Americans, which may contain hazardous wastes and represent urban blight. Neonates and pregnant individuals are often sensitive to subtle environmental exposures. We evaluate if residential exposure to lead (Pb) brownfields is associated with birth defects.
    METHODS: Using North Carolina birth records from 2003 to 2015, we sampled 169,499 births within 10 km of a Pb brownfield with 3255 cardiovascular, central nervous, or external defects identified. Exposure was classified by binary specification of residing within 3 km of a Pb brownfield. We utilized multivariable logistic regression models adjusted for demographic covariates available from birth records and 2010 Census to estimate odds ratios (OR) and 95% confidence intervals (CI). Effect measure modification was assessed by inclusion of interaction terms and stratification for the potential modifiers of race/ethnicity and diabetes status.
    RESULTS: We observed positive associations between cardiovascular birth defects and residential proximity to Pb brownfields, OR (95%CI): 1.15 (1.04, 1.26), with suggestive positive associations for central nervous 1.16 (0.91, 1.47) and external defects 1.19 (0.88, 1.59). We did observe evidence of effect measure modification via likelihood ratio tests (LRT) for race/ethnicity for central nervous and external defect groups (LRT p values 0.08 and 0.02). We did observe modification by diabetes status for the cardiovascular group (LRT p value 0.08).
    CONCLUSIONS: Our results from this analysis indicate that residential proximity to Pb brownfields is associated with cardiovascular birth defects with suggestive associations for central nervous and external defects. In-depth analyses of individual defects and other contaminants or brownfield site functions may reveal additional novel associations.
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  • 文章类型: Case Reports
    背景:Herlyn-Werner-Wunderlich综合征,一种罕见的苗勒管先天性疾病,以白喉子宫为特征,失明的半阴道,和同侧肾发育不全。诊断是在年轻时通过超声和磁共振成像,预后良好.通常,并发症演变为子宫内膜异位症和继发性盆腔炎。
    方法:一名40岁女性患者,巴西,白色,primigravida,30岁时超声诊断为双形子宫,四年后,患有左卵巢子宫内膜瘤,多发性卵巢囊肿,磁共振成像显示左肾发育不全。随后,由于性交困难和肿胀的感觉,患者接受了经阴道超声检查并进行肠道准备,并发现了血液综合征,怀疑是Herlyn-Werner-Wunderlich综合征;诊断后10年,她计划怀孕。她在怀孕第15周后出现频繁的宫缩,幸运的是没有并发症或早产。在第40周和第6天引产,无进展,并指示剖宫产,无并发症。Herlyn-Werner-Wunderlich综合征经常被忽视,导致治疗不充分。患有Herlyn-Werner-Wunderlich综合征的人通常面临生育问题,如高流产率(21-33%),产科并发症,如自然流产(40%的风险),宫内生长受限,产后出血,增加胎儿死亡率,早产(21-29%),剖宫产率升高。此外,子宫内膜异位症的易感性更高,尤其是阴道半梗阻,和盆腔粘连。
    结论:早期诊断可以及时治疗,因此,并发症少。尽管如此,当这些因素不存在时,阴道分娩仍然是可能的。与Herlyn-Werner-Wunderlich综合征相关的并发症的真实患病率和发生率仍然未知。
    BACKGROUND: Herlyn-Werner-Wunderlich syndrome , a rare Müllerian ducts congenital disease, is characterized by a diphtheritic uterus, blind hemivagina, and ipsilateral renal agenesis. Diagnosis is at young age by ultrasound and magnetic resonance imaging, and the prognosis is good. Usually, complications evolve endometriosis and secondary pelvic inflammation.
    METHODS: A 40-year-old female patient, Brazilian, white, primigravida, diagnosed at 30 years with a didelphic uterus on ultrasound, and 4 years later, with a left ovarian endometrioma, multiple ovarian cysts, and left renal agenesis on magnetic resonance imaging. Subsequently, due to dyspareunia and a feeling of swelling, the patient underwent transvaginal ultrasound with bowel preparation, and a hematocolpos was found and Herlyn-Werner-Wunderlich syndrome was suspected; 10 years after the diagnosis she had a planned pregnancy. She presented frequent contractions following the 15th week of pregnancy and fortunately there were no complications or premature labor. Labor was inducted at 40 weeks and 6 days without progress and a cesarean section was indicated and performed without complications. Herlyn-Werner-Wunderlich syndrome often goes unnoticed, leading to inadequate treatment. Individuals with Herlyn-Werner-Wunderlich syndrome commonly face fertility issues, such as high miscarriage rate (21-33%), and obstetric complications, such as spontaneous abortions (40% risk), intrauterine growth restriction, postpartum hemorrhage, increased fetal mortality, preterm delivery (21-29%), and elevated rates of cesarean sections. In addition, there is higher susceptibility of developing endometriosis, especially with hemivaginal obstruction, and pelvic adhesions.
    CONCLUSIONS: Early diagnosis enables timely treatment and, consequently, fewer complications. Still, when these factors are absent, vaginal birth may still be possible. The true prevalence and incidence of complications related to Herlyn-Werner-Wunderlich syndrome are still unknown.
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  • 文章类型: Journal Article
    背景:生活在高海拔地区与某些出生缺陷的患病率较高有关。中等海拔(1500-2500m)与一些先天性心脏病和低出生体重有关。然而,尚未对其他孤立的先天性畸形进行研究。
    目的:评估在低海拔和中等海拔地区出生时孤立的先天性畸形的患病率,并确定中等海拔是否是一个危险因素,比如高海拔,针对其他因素调整后的孤立先天性畸形。
    方法:该研究包括13例孤立的先天性畸形的病例对照多中心多区域研究。病例包括1978年1月至2019年12月墨西哥登记处低海拔(10-1433m)和中等海拔(1511-2426m)的孤立先天性畸形活产和对照。估计每个海拔组的每10,000人的患病率(95%CI)。我们进行了未调整和调整的逻辑回归模型(调整了产妇年龄,奇偶校验,畸形的亲戚,社会经济水平,和母体糖尿病)对于每个孤立的先天性畸形。
    结果:脑积水和小耳畸形在出生时的患病率较高,和脊柱裂,耳前标记,腹裂在中等海拔地区的出生患病率较低。中度海拔高度是脑积水的危险因素(aOR1.39),microtia(aOR1.60),唇腭裂(aOR1.27),与低海拔相比,多指(aOR1.32)和对脊柱裂的保护作用(aOR0.87)。
    结论:我们的发现提供了证据,表明中等海拔高度和较高海拔高度是一些孤立的先天性畸形的相关风险或保护因素,暗示可能的梯度效应。
    BACKGROUND: Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500-2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations.
    OBJECTIVE: To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors.
    METHODS: The study consisted of a case-control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10-1433 m) and moderate altitudes (1511-2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation.
    RESULTS: Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes.
    CONCLUSIONS: Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.
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  • 文章类型: Case Reports
    一名27岁的未产妇女表现出下腹部充满感和腹痛。左卵巢肿瘤,双子宫,左肾发育不全,影像学观察左侧阴道闭锁。据推测是卵巢肿瘤引起了腹痛,并进行了腹部左侧附件切除术。三个月后,她报告月经期间下腹痛严重。经阴道超声显示子宫增大。17天后,患者出现腹痛和发烧。由于感染和左子宫血肿,她被诊断为腹膜炎。因为她用抗生素治疗没有改善,行左腹腔镜子宫切除术。随后,她没有经历下腹痛。对于Herlyn-Werner-Wunderlich综合征患者,必须考虑根据生殖道的形态和症状进行适当的诊断和治疗。治疗必须允许经血流出。
    A 27-year-old nulliparous woman presented with a feeling of fullness in the lower abdomen and abdominal pain. A left ovarian tumor, uterus didelphys, left renal agenesis, and left vaginal atresia were observed on imaging. The ovarian tumor was presumed to have caused the abdominal pain, and an abdominal left adnexectomy was performed. After 3 months, she reported severe lower abdominal pain during menstruation. Transvaginal ultrasonography revealed uterine enlargement. After 17 days, the patient presented with abdominal pain and fever. She was diagnosed with peritonitis due to infection and left uterine hematometra. Because she did not improve with antibiotic treatment, left laparoscopic hysterectomy was performed. Subsequently, she did not experience the lower abdominal pain. Appropriate diagnosis and treatment based on the morphology of the reproductive tract and symptoms must be considered in patients with Herlyn-Werner-Wunderlich syndrome. Treatment must permit the outflow of menstrual blood.
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  • 文章类型: Case Reports
    唇腭裂(CLP)是颅面发育中的复杂畸形,范围从孤立到综合征表现。此病例报告强调了CLP患者综合征关联的识别和早期管理。该报告介绍了一例一个月大的女性患者,患有完全单侧CLP和马蹄内翻足。对患者进行了全面评估,并制定了治疗计划。进行术前鼻肺泡成型,以进行软骨和牙槽骨的初始对齐。讨论中介绍了马蹄足的治疗方式。以下演讲强调了综合征性CLP的特征以及多学科治疗对最佳患者护理的重要性。这份报告强调了协调努力在管理复杂先天性疾病患者的多方面需求方面的作用,以改善他们的整体健康状况和生活质量。
    Cleft lip and palate (CLP) are complex deformities in craniofacial development that can range from isolated to syndromic presentations. This case presentation emphasizes the identification and early management of syndromic associations in patients with CLP. The report presents a unique case of a one-month-old female patient with complete unilateral CLP and clubfoot. The patient was comprehensively assessed, and a treatment plan was formulated. Presurgical nasoalveolar molding was done for the initial alignment of cartilages and alveolar bone. The treatment modalities for clubfoot are presented in the discussion. The following presentation emphasizes the characteristics of syndromic CLP and the importance of multidisciplinary therapy toward optimum patient care. This report underlines the role of coordinated efforts in managing the multifaceted needs of patients with complex congenital conditions to improve their overall well-being and quality of life.
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  • 文章类型: Case Reports
    子宫是女性生殖道的一种罕见的先天性异常,其特征是子宫颈和身体分开。它是由于准肾气(Mülerian)导管的异常发育而发生的。在几种动物物种中已经报道了不同形式的子宫didelphys,包括牛,马,Ewe,山羊,猪,婊子。然而,以前没有报告记录了骆驼中完全分裂的女性生殖道。此外,缺乏关于动物这种异常的文献。因此,本研究报告,第一次,一种罕见的女性生殖道完全分裂的病例。此外,综述了现有的关于不同动物种类的子宫didelphys的相关文献。
    骆驼的雌性生殖道,大约10岁,有以前成功怀孕的历史,在动物被宰杀后被带到解剖学部门。初步检查显示由两个卵巢组成的正常生殖道,两个输卵管,子宫,还有一个阴道.仔细检查发现阴道完全分裂,阴道的每个部分都有一个外部的操作系统,还有一个分开的子宫体和子宫颈。通过一个外部口在子宫内输注生理盐水,证实子宫体和子宫颈完全分离。
    对于作者的知识,这是第一例报告的雌性生殖道完全分裂的病例。这篇综述总结了先前关于农场动物子宫双子宫的报道。
    UNASSIGNED: Uterus didelphys is a rare congenital anomaly of the female reproductive tract characterized by a divided uterine cervix and body. It occurs due to abnormal development of the paramesonephric (Müllerian) duct. Different forms of uterus didelphys have been reported in several animal species, including bovine, equine, ewe, goat, swine, and bitch. However, there is no previous report that has documented a completely divided female genital tract in she-camel. Moreover, there is a lack of literature regarding this anomaly in animals. Therefore, the present study reports, for the first time, a rare case of a completely divided female genital tract in a she-camel. In addition, the existing relevant literature on uterus didelphys in different animal species is reviewed.
    UNASSIGNED: A female reproductive tract of she-camel, approximately 10 years old, with a history of previous successful pregnancy, was brought to the anatomy department following the slaughtering of the animal. Initial examination revealed a normal reproductive tract consisting of two ovaries, two fallopian tubes, a uterus, and a vagina. A closer examination revealed a completely divided vagina, with an external os opened into each part of the vagina, as well as a divided uterine body and cervix. Intrauterine infusion of saline through one external os confirmed complete separation of uterine body and cervix.
    UNASSIGNED: To the authors\' knowledge, this is the first reported case of a completely divided female genital tract in a she-camel. This review summarizes the previous reports about uterus didelphys in farm animals.
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  • 文章类型: Journal Article
    结肠重复构成一种罕见的先天性异常,特征在于存在表现出上皮衬里的肠壁的中空囊性或管状结构。由于其发病率低和表现为腹痛或便秘等非特异性症状,诊断挑战持续存在。导致不愿进行手术切除。由于结肠重复中的相关恶性肿瘤很少见,这些异常的固有恶性潜力仍未确定。此外,尽管有结肠重复相关恶性肿瘤的报道,文献中没有关于这些病例中的管状腺瘤的详细报道.该病例的组织学特征特别值得注意,位于癌前阶段,在结肠重复内潜在的腺癌进展。
    Colonic duplication constitutes a rare congenital anomaly, characterized by the presence of hollow cystic or tubular structures exhibiting an epithelial-lined intestinal wall. Diagnostic challenges persist due to its low incidence and manifestation of nonspecific symptoms such as abdominal pain or constipation, resulting in a reluctance to pursue surgical resection. As associated malignancies in colonic duplication are rare, the inherent malignant potential of these anomalies remains undetermined. Additionally, despite reported instances of associated malignancies in colonic duplication, there is an absence of reports in the literature detailing tubular adenoma within these cases. The histologic features of the presented case are particularly noteworthy, situated at the precancerous stage, intimating potential progression towards adenocarcinoma within colonic duplication.
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    文章类型: Case Reports
    Mayer-Rokitansky-Kuster-Hauser(MRKH)综合征是一种罕见的先天性疾病,影响女性生殖系统,其特征是子宫和阴道不发达或缺失。一名十七岁未婚女性入住内分泌科,Mymensingh医学院附属医院,孟加拉国于2023年11月评估原发性闭经和控制不佳的糖尿病。她是第5期通过正常阴道分娩分娩的非近亲婚姻。她的成长模式和发展里程碑是正常的。她没有溢乳的病史,慢性或周期性盆腔疼痛,甲状腺功能异常,过度运动,精神病,或药物滥用。她的家人没有这种疾病的历史。两年前,她被诊断出患有糖尿病,没有经典症状,在那个时候,她的血糖为22mmol/L。给她开了二甲双胍和格列齐特的处方。她没有低血糖病史,高血糖危机,或入院。在检查中,她的身体和营养状况都正常。贫血,黄疸,水肿,脱水,淋巴结病,痤疮,多毛症,黑棘皮病,腹部纹和白癜风缺失。她的血压是110/70,没有姿势下降,甲状腺没有肿大,人体测量结果正常,BMI为18.4kg/m2.她的制革舞台是P5和B4。生殖器检查显示女性外生殖器正常,发现了一个盲目的阴道袋。其他全身检查未发现异常。在实验室报告中,她的血糖不受控制(HbA1c-10.2%),糖尿。甲状腺功能及性腺激素正常。腹部超声显示子宫,子宫颈,阴道上部不存在,还有左肾异位.
    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system and is characterized by an underdeveloped or absent uterus and vagina. A 17-year-old unmarried female was admitted into the Department of Endocrinology, Mymensingh Medical College Hospital, Bangladesh in November 2023 for evaluation of primary amenorrhea and poorly controlled diabetes mellitus. She was the 5th issue of non-consanguineous marriage delivered at term by normal vaginal delivery. Her growth pattern and developmental milestones were normal. She had no history of galactorrhea, chronic or cyclic pelvic pain, thyroid dysfunction, excessive exercise, psychiatric illness, or drug abuse. There was no history of such type of illness in her family. She was diagnosed with diabetes mellitus two years back without classic symptoms, and at that time, her blood glucose was 22 mmol/L. She was prescribed metformin and gliclazide. She had no history of hypoglycemia, hyperglycemic crises, or hospital admission. On examination, her body build and nutritional status were normal. Anemia, jaundice, edema, dehydration, lymphadenopathy, acne, hirsutism, acanthosis nigricans, abdominal striae and vitiligo were absent. Her blood pressure was 110/70 without the postural drop, thyroid gland was not enlarged, anthropometric measurements were normal and BMI was 18.4 kg/m2. Her tanner stage was P5 & B4. Genital examination revealed normal female external genitalia, and a blind vaginal pouch was found. Other systemic examinations revealed no abnormality. On laboratory reports, her blood glucose was uncontrolled (HbA1c-10.2%) with glycosuria. Thyroid function test and gonadal hormones were normal. Ultrasonogram of the abdomen revealed uterus, cervix, and upper part of the vagina are absent, and an ectopic left kidney.
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  • 文章类型: Case Reports
    如果术前未发现输尿管畸形,则检测输尿管损伤是子宫切除术的严重术中和术后并发症,这是一个很高的难度。一名39岁的日本妇女因子宫腺肌病接受了全腹腔镜子宫切除术。手术期间,右侧没有输尿管蠕动,而左侧输尿管在腹膜下可见。经腹超声检查未能定位右肾,膀胱镜检查显示右输尿管口无血流。通过追踪髂内动脉和子宫动脉的血管路径来确定输尿管隧道,确认绑带组织是正确的输尿管。术后对比增强CT提示右肾严重萎缩,无对比作用或连接输尿管。根据术中腹腔镜和术后检查,诊断为单侧输尿管瘢痕,近端盲端和同侧肾发育不全,标记这种异常的内窥镜可视化的第一个报告实例。除了正常的骨盆解剖结构,外科医生必须考虑胚胎异常,以防止术中并发症。
    Detecting ureteral injury-a serious intraoperative and postoperative complication of hysterectomy-is a high level of difficulty if ureteral malformations are not identified preoperatively. A 39-year-old Japanese woman underwent total laparoscopic hysterectomy for uterine adenomyosis. During surgery, ureteral peristalsis was absent on the right side, whereas the left ureter was visible under the peritoneum. Transabdominal ultrasonography failed to locate the right kidney, with cystoscopy showing no flow from the right ureteral orifice. The ureteral tunnel was identified by tracing the vascular path of the internal iliac and uterine arteries, confirming that the corded tissue was the right ureter. Postoperative contrast-enhanced CT revealed severe right kidney atrophy with no contrast effect or connected ureter. Based on intraoperative laparoscopy and postoperative examination, a diagnosis of a unilateral ureteral scar with a proximal blind end and ipsilateral renal dysgenesis was established, marking the first reported instance of endoscopic visualization of this anomaly. In addition to normal pelvic anatomy, surgeons must consider embryological abnormalities to prevent intraoperative complications.
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