malformation

畸形
  • 文章类型: Case Reports
    Galen动脉瘤性静脉畸形是一种罕见的先天性脑血管畸形。这是胚胎血管持续存在的结果,导致多个动静脉分流。这种畸形可引起多种症状,从心力衰竭到头痛,具体取决于就诊年龄。在胎儿中,心脏表现很少见,并且与非常差的预后有关。这就是为什么产前诊断在早期发现和管理中至关重要。我们介绍一例Galen动脉瘤畸形的静脉,产前超声诊断。新生儿广泛发展为高输出心力衰竭。产前诊断有助于早期发现这种畸形并预测预后。
    The vein of Galen aneurysmal malformation is a rare congenital malformation of the cerebral blood vessels. It is a result of the persistence of an embryonic vessel that drains multiple arteriovenous shunts. This malformation can cause a multitude of symptoms ranging from cardiac failure to headaches depending on the age of presentation. In the fetus, cardiac manifestations are rare and are linked to a very poor prognosis. That\'s why prenatal diagnosis is crucial in early detection and management. We present a case of a vein of Galen aneurysmal malformation, diagnosed prenatally with ultrasonography. The newborn developed widely a high-output cardiac failure. Prenatal diagnosis facilitates the early detection of this malformation as well as predicting the prognosis.
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  • 文章类型: Case Reports
    完全小脑发育不全是一种极其罕见的疾病,其特征是完全没有小脑组织。只有少数病例报告,有不同的运动和认知缺陷。我们描述了一个11个月大的婴儿发育迟缓的案例,其CT扫描评估显示小脑完全缺失,没有其他相关的脑畸形。
    Complete cerebellar agenesis is an extremely rare condition characterized by the complete absence of cerebellar tissue. Only a small number of cases have been reported, with varying motor and cognitive deficits. We describe a case of an 11-month-old baby with developmental delay, whose CT scan evaluation showed the complete absence of the cerebellum with no other associated cerebral malformation.
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  • 文章类型: Case Reports
    血管瘤被认为是生长缓慢的良性肿瘤。原发性甲状腺血管瘤并不常见,由于缺乏独特的影像学特征和相关的临床症状,可能难以诊断。在某些情况下,准确识别这些病变以帮助实施非手术治疗计划而不是诉诸外科手术至关重要。在本报告中,我们介绍了一名76岁的女性,她表现出无痛,快速,并在1天内突然注意到右侧颈部肿胀。她的放射学检查引起了对血管内扩张的血管病变的关注。然后,手术切除了,最终确定为原发性甲状腺血管瘤。此外,我们对以前发表的病例进行了文献综述,并讨论了肿瘤病理生理学,临床表现,放射学特征,和鉴别诊断。
    Hemangiomas are considered slow growing benign neoplasms. Primary thyroid hemangiomas are uncommon and may pose difficulty in diagnosis due to absence of distinctive imaging characteristics and related clinical symptoms. It is crucial to precisely identify these lesions to aid in implementing nonsurgical treatment plans rather than resorting to surgical procedures in certain cases. In this report we present a case of a 76-year-old female who presented with painless, rapid, and sudden notice of right-side neck swelling over a 1-day duration. Her radiological examinations raised the concern of a vascular lesion that was emoblized endovascularly. Then, it was surgically removed, which was eventually determined to be primary thyroid hemangioma. In addition, we present a literature review of previously published cases and discuss tumor pathophysiology, clinical presentations, radiology features, and differential diagnosis.
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  • 文章类型: Case Reports
    孤立的单侧缺乏月液是一种极为罕见的疾病,到目前为止,英语文献中仅报道了一例。这种情况的罕见会导致诊断困境,特别是如果患者有手腕周围的创伤或手术史,导致不必要的干预和难以确保良好的手术效果。我们介绍了这种情况,并讨论了诊断这种情况的临床指标。证据等级:V级(治疗)。
    Isolated unilateral absence of lunate is an extremely rare condition with only one such case reported in English literature so far. The rarity of this condition can lead to diagnostic dilemma, especially if patient has an old history of trauma or surgery around the wrist, leading to unnecessary intervention and difficulty in ensuring a good surgical outcome. We present such a case and discuss the clinical pointers to the diagnosis of this condition. Level of Evidence: Level V (Therapeutic).
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  • 文章类型: Journal Article
    背景:先天性脂肪瘤过度生长,血管畸形,表皮痣,脊柱/骨骼异常,和/或脊柱侧凸(CLOVES)综合征是最近描述的以脂肪组织先天性过度生长为特征的联合血管异常,血管畸形,表皮痣,和骨骼畸形。这种情况表现出临床表现的显着变异性和快速进展的趋势,并影响广泛的解剖区域。关于硬膜外脂肪瘤病与低流量静脉淋巴管畸形的相关性的信息很少见,文献中很少有报道。
    方法:作者介绍了一个6岁女孩的案例,该女孩入院急诊科,抱怨她的下肢无力迅速发展,腹股沟区感觉部分丧失。放射学上,在T2-6水平确定了硬膜外肿块,导致急性脊髓压迫.对肿块进行紧急减压和部分切除。尽管术中止血和淋巴止血令人满意,术后淋巴漏/血清瘤漏作为一种延迟性并发症,并予以保守治疗.
    结论:CLOVES综合征的特征是各种临床症状的组合,并非所有这些都包含在缩写中,以及逐渐恶化的过程,新症状的出现,以及患者一生中的并发症。这就需要持续监测这些患者。
    BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions. Information regarding the association of epidural lipomatosis with low-flow venous lymphatic malformations is rare, with few reports in the literature.
    METHODS: The authors present a case of a 6-year-old girl who was admitted to the emergency department complaining of rapidly progressing weakness in her lower extremities and partial loss of sensation in the inguinal area. Radiologically, an extradural mass was identified at the T2-6 level, causing acute spinal cord compression. Urgent decompression and partial resection of the mass were performed. Despite satisfactory intraoperative hemo- and lymphostasis, postoperative lymphorrhea/seroma leakage was encountered as a delayed complication and was managed conservatively.
    CONCLUSIONS: CLOVES syndrome is characterized by the combination of various clinical symptoms, not all of which are included in the abbreviation, as well as a progressively deteriorating course, the emergence of new symptoms, and complications throughout the patient\'s life. This necessitates ongoing monitoring of such patients.
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  • 文章类型: Journal Article
    背景:在胆道系统的各种异常中,在胃中异位引流的双胆总管是罕见的。此外,异位胆管在胃癌中极为罕见。
    方法:我院收治一名67岁男子,因胃癌并异位左肝外胆管胃内引流。术前测试显示肝内胆管之间没有连通。行远端胃切除术和胆管空肠造口术。手术后的过程很顺利,患者在39个月内没有出现复发。
    结论:尽管不确定异位胆管的持续胆汁暴露是否与胃癌有关,短期随访可能是必要的,因为胃癌的可能性。
    BACKGROUND: Among the various anomalies of the biliary system, a double common bile duct with ectopic drainage in the stomach is rare. Furthermore, ectopic bile ducts are extremely rare in gastric cancers.
    METHODS: A 67-year-old man was admitted to our hospital with gastric cancer and ectopic left extrahepatic bile duct drainage in the stomach. Pre-operative testing revealed no communication between the intrahepatic bile ducts. Distal gastrectomy and bile duct jejunostomy were performed. The post-operative course was uneventful, and the patient did not exhibit recurrence for 39 mo.
    CONCLUSIONS: Although it is uncertain whether sustained bile exposure from an ectopic bile duct is related to gastric cancer, short-term follow-up might be necessary because of the possibility of gastric cancer.
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  • 文章类型: Case Reports
    这种情况下的全前脑畸形和斜视强调了产前检查的价值,特别是在低收入国家。早期超声诊断导致妊娠早期终止,防止父母的心理创伤。
    Alobar全前脑畸形是一种罕见的畸形,预后不良,与睫状肌有关,最严重的颅骨特征.产前检查对于识别这些畸形和防止父母的心理健康损害至关重要。
    UNASSIGNED: This case of alobar holoprosencephaly and cyclopia emphasizes the value of prenatal check-ups, particularly in low-income countries. Early ultrasound diagnosis leads to early gestational termination, preventing psychological trauma for the parents.
    UNASSIGNED: Alobar holoprosencephaly is a rare-occurrence malformation with a bad prognosis linked to cyclopia, the most severe cranial feature. Prenatal examinations are essential for identifying these deformities and preventing parental mental health damage.
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  • 文章类型: Case Reports
    我们介绍了一个17岁女孩的病例,其中直肠出血继发于盆腔动静脉畸形(AVM)和潜在的痔疮。盆腔动静脉畸形在临床表现上非常罕见且变化很大,大小和位置,并构成治疗挑战。研究重点已转向以血管栓塞术作为骨盆AVM的主要治疗形式的介入放射学程序。
    方法:一名17岁女孩因直肠出血严重而被送往乡村医院,需要转移到具有介入放射学能力的三级中心。诊断成像确定了盆腔AVM以及痔疮的存在。她之前没有痔疮病史,每次直肠出血或每次阴道出血。进行了进一步的诊断成像,包括数字减影血管造影和MRI骨盆,并在多学科会议上讨论了她的病例,该会议决定对大型右直肠AVM进行血管栓塞以及对继发于流出道阻塞的痔疮进行预防性绑扎。一个月后重复CT肠系膜血管造影显示直肠AVM的出现减少。
    盆腔AVM是一种罕见的实体,不是直肠出血的常见原因。目前,对于复杂的盆腔AVM的最佳管理尚无直接共识,尤其是那些伴有第二种病理如痔疮的患者。手术处理通常导致AVM病变的复发或快速进展,并且新的血液供应的募集进一步使问题复杂化。选择性栓塞可以控制出血,并使用化学试剂以及可拆卸的线圈和球囊。然而,术后疼痛和肿胀仍可预期,可能需要多次经导管栓塞.
    结论:有症状的盆腔AVM的治疗是复杂的,需要多学科的方法,并在栓塞前进行仔细的放射学规划。血管栓塞变得越来越普遍,并且可能需要多个栓塞程序以达到期望的治疗效果。
    UNASSIGNED: We present the case of a 17 years old girl with per rectal haemorrhage secondary to pelvic arteriovenous malformations (AVM) and potentially haemorrhoids. Pelvic AVMs are rare and extremely variable in their clinical presentation, size and location and pose a therapeutic challenge. Focus has turned towards interventional radiological procedures with angioembolisation as the main treatment form for pelvic AVMs.
    METHODS: A 17 years old girl presented to a rural hospital with significant per rectal bleeding requiring transfer to a tertiary centre with interventional radiology capabilities. Diagnostic imaging determined the presence of a pelvic AVM as well as haemorrhoid. She had no prior history of haemorrhoids, per rectal bleeding or per vaginal bleeding. Further diagnostic imaging including a digital subtraction angiography and MRI pelvis was performed and her case was discussed at a multidisciplinary meeting where the decision was made for angioembolisation of a large right rectal AVM as well as precautionary banding of haemorrhoids that had developed secondary to outflow obstruction. A repeat CT mesenteric angiogram a month later demonstrated diminished appearances of the rectal AVM.
    UNASSIGNED: Pelvic AVMs are a rare entity and are not a common cause for per rectal bleeding. There is currently no direct consensus on the optimum management of complex pelvic AVMs particularly those that present with a second pathology such as haemorrhoids. Surgical management often results in recurrence or rapid progression of the AVM lesion and recruitment of new blood supply further complicates the problem. Selective embolisation allows for control of haemorrhage and utilises chemical agents as well as detachable coils and balloons. However, postoperative pain and swelling can still be expected and multiple transcatheter embolisations may be required.
    CONCLUSIONS: The treatment of symptomatic pelvic AVMs is complex and requires a multidisciplinary approach with careful radiological planning prior to embolisation. Angioembolisation is becoming increasingly prevalent and multiple embolisation procedures may be required to reach the desired therapeutic effect.
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  • 文章类型: Case Reports
    目的:血管畸形分为血管肿瘤或血管畸形。在儿科人群中,血管畸形可能难以诊断和治疗,并且可能伪装成恶性过程。了解血管畸形背后的遗传学可以导致识别可以用靶向免疫疗法治疗的特定突变。
    方法:我们的病例显示,一名儿科患者尽管进行了多次手术切除和全身药物治疗,但血管畸形逐渐扩大,并进行了基因评估,发现有PIK3CA突变。
    结果:鉴定PIK3CA突变后,我们的病人成功地治疗了p110α特异性抑制剂,alpelisib,在随访影像中畸形的缩小以及她的发展里程碑的进步。
    结论:儿童人群中进行性血管畸形难以诊断和治疗,被认为是由体细胞突变引起的。我们的病例突出显示了一名尽管进行了多次手术切除但仍患有进行性畸形的患者,该患者在正确识别基因突变后已成功接受靶向免疫疗法治疗。
    OBJECTIVE: Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy.
    METHODS: Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation.
    RESULTS: After identification of PIK3CA mutation, our patient was successfully treated with the p110ɑ-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones.
    CONCLUSIONS: Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation.
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  • 文章类型: Journal Article
    Gorlin-Goltz综合征(GGS)是一种高外显率的常染色体显性遗传多系统疾病。先前曾报道过预示GGS的头痛,但没有讨论潜在的来源。我们报告了一名头痛和新的关联(脊髓纵裂)的患者,这有助于诊断。一名46岁的妇女表现为持续的全颅头痛。在检查中,脸上有无数色素沉着的基底细胞痣,手掌/足底表面上的凹坑,观察到手掌和足底角化病。脊髓的磁共振成像(MRI)显示脊髓纵裂。最后对GGS进行了诊断。GGS的临床表现中应包括头痛和脊髓纵裂。
    Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.
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