vascular malformations

血管畸形
  • 文章类型: Case Reports
    背景:血淋巴管瘤是一种罕见的,起源于血管和淋巴畸形的非侵袭性良性肿瘤。它通常是先天性的,并且可以根据其位置和大小而表现出不同的症状。很少有关于椎管内血淋巴管瘤的报道,巨大的病变非常罕见。
    方法:2023年7月,滨州市人民医院脊柱外科收治1例64岁男性胸11-腰2型巨大椎管内硬膜外血管瘤(T11-L2),中国。患者出现进行性腰椎和左下肢疼痛,麻木,双下肢无力,排尿和排便困难。影像学研究显示,T11-L2的椎管内有大量囊性肿块。进行了手术减压,病理证实为血淋巴管瘤。
    结论:完全切除血淋巴管瘤预后最好,最终诊断依赖于病理诊断。在这种情况下,用椎弓根钉棒系统完整地去除肿块,导致充分的脊柱减压和脊柱稳定性的恢复。
    BACKGROUND: Hemolymphangioma is a rare, noninvasive benign tumor that originates from vascular and lymphatic malformations. It is usually congenital and can present with varying symptoms depending on its location and size. There are very few reports of hemolymphangiomas within the spinal canal, and giant lesions are exceptionally rare.
    METHODS: In July 2023, a 64-year-old male with a giant intravertebral epidural hemolymphangioma from thoracic 11 to lumbar 2 (T11-L2) was admitted to the Department of Spine Surgery at the People\'s Hospital of Binzhou City, China. The patient experienced progressive lumbar and left lower limb pain, numbness, weakness in both lower limbs, and difficulty with urination and defecation. Imaging studies revealed a large cystic mass in the spinal canal at T11-L2. Surgical decompression was performed, and the pathology confirmed hemolymphangioma.
    CONCLUSIONS: Complete resection of hemolymphangiomas has the best prognosis, and final diagnosis relies on pathologic diagnosis. In this case, the mass was removed intact with a pedicle nail rod system, leading to adequate spinal decompression and restoration of spinal stability.
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  • 文章类型: Journal Article
    Klippel-Trenaunay综合征(KTS)是一种罕见的先天性血管疾病,其特征是广泛的毛细血管和静脉畸形,在怀孕期间构成独特的挑战。本病例报告讨论了一名34岁的KTS孕妇两次剖腹产的成功治疗,导致两个健康的婴儿出生。尽管KTS缺乏基于证据的产科管理指南,一个多学科小组合作制定了高危血栓形成管理计划,涉及使用压缩袜和低分子量肝素预防。患者血栓形成的风险升高,在怀孕期间加剧,告知剖腹产的决定,与发现在大多数KTS怀孕中,根据产科适应症和动静脉畸形选择这种分娩方式.这个案例突出了系统和以病人为中心的护理的重要性,倡导全面的产科管理指南,以应对怀孕期间KTS带来的独特挑战。有必要进行进一步的研究,以增强我们对与KTS相关的血管异常个体的理解和完善指南。
    Klippel-Trenaunay Syndrome (KTS) is a rare congenital vascular disorder characterized by extensive capillary and venous malformations that pose unique challenges during pregnancy. This case report discusses the successful management of a 34-year-old pregnant woman with KTS who had two caesarean sections, resulting in the birth of two healthy babies. Despite the lack of evidence-based guidelines for obstetrical management in KTS, a multidisciplinary team collaborated to devise a high-risk thrombosis management plan, involving the use of compression stocking and low molecular weight heparin prophylaxis. The patient\'s elevated risk of thrombosis, exacerbated during pregnancy, informed the decision of caesarean sections, aligning with finding that in most KTS pregnancies, this method of delivery based on obstetric indications and arteriovenous malformations is chosen. This case highlights the importance of systematic and patient-centered care, advocating for comprehensive obstetric management guidelines to address the unique challenges posed by KTS during pregnancy. Further research is warranted to enhance our understanding and refine guidelines for individuals with vascular abnormalities linked to KTS.
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  • 文章类型: Case Reports
    背景:纵隔静脉畸形(MVM)和梭形上腔静脉动脉瘤(F-SVCA)都是罕见的先天性血管畸形。
    方法:一名46岁男性,表现为病因不明的急性缺血性卒中。计算机断层扫描(CT)血管造影显示MVM和F-SVCA共存。诊断性静脉造影显示F-SVCA内血流速度显著降低,但未能确定与左心系统或肺静脉的直接连接。患者因中风引起的广泛脑损伤而死亡。
    结论:这种情况可能会增加对这些异常进行细致的放射学评估和预防性管理的必要性,纵隔血管异常可导致血栓栓塞并发症。
    BACKGROUND: Mediastinal venous malformation (MVM) and fusiform superior vena cava aneurysm (F-SVCA) are both rare congenital vascular anomalies.
    METHODS: A 46-year-old male presented with acute ischemic stroke of unknown etiology. Computed tomography (CT) angiography revealed the coexistence of MVM and F-SVCA. Diagnostic venography demonstrated a significant reduction in blood flow velocity within the F-SVCA, but failed to identify a direct connection to the left heart system or pulmonary vein. The patient expired due to extensive brain damage caused by a stroke.
    CONCLUSIONS: This case may increase the necessity of meticulous radiological evaluation and preventive management for these anomalies, as mediastinal vascular anomalies can result in thromboembolic complications.
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  • 文章类型: Case Reports
    家族性血管瘤病是由GlomulinGLMN基因突变引起的罕见常染色体显性血管畸形。它的特征是出现由血管球细胞包围的不成熟静脉组成的多个血管球肿瘤。我们介绍了一例11岁的家族性血管瘤病女孩,该女孩用Nd:YAG长脉冲激光治疗成功。进行了三次激光治疗,导致病变减少80%以上,疼痛完全消失,没有不良反应报告。该病例报告证明了Nd:YAG长脉冲激光治疗家族性血管瘤病的良好风险效益比。
    Familial glomangiomatosis is a rare autosomal dominant vascular malformation caused by a mutation in the glomulin GLMN gene. It is characterized by the appearance of multiple glomus tumors composed of dysmature veins surrounded by glomus cells. We present a case of an 11-year-old girl with familial glomangiomatosis successfully treated with Nd:YAG long-pulse laser. Three sessions of laser treatment were performed, resulting in more than 80% reduction of the lesion and complete disappearance of pain, with no adverse effects reported. This case report demonstrates the excellent risk-benefit ratio of Nd:YAG long-pulse laser in the treatment of familial glomangiomatosis.
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  • 文章类型: Case Reports
    一个十几岁的男孩在6周内间歇性地表现出右眼和鼻孔的出血逐渐增加。完整的眼科检查没有发现任何意义。他的耳湿性检查和血液学检查在正常范围内。一个月后,病人来了,右眼流血。眼科检查显示右下睑结膜充血和浸渍。对该部位结膜刮片的组织病理学检查显示血管异常扩张,提示血管畸形。数字减影血管造影证实了由颈外动脉和眼动脉分支提供的结膜微动静脉畸形的存在。他经历了成功的经动脉Onyx栓塞术,从而完全消除了血液阻塞。
    A boy in his mid-teens presented with progressively increasing bleeding from the right eye and nostril intermittently over a period of 6 weeks. A complete ophthalmic examination revealed nothing significant. His otorhinological examination and haematological investigations were within normal limits. The patient came a month later with frank bleeding from the right eye. Ophthalmic examination revealed hyperaemia and maceration of the right lower palpebral conjunctiva. A histopathological examination of conjunctival scrapings from the site showed abnormal dilated blood vessels suggestive of a vascular malformation. Digital subtraction angiography confirmed the presence of a conjunctival micro arteriovenous malformation supplied by the external carotid and ophthalmic artery branches. He underwent successful transarterial Onyx embolisation resulting in complete resolution of the haemolacria.
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  • 文章类型: Case Reports
    血管畸形是罕见的先天性血管异常,持续一生。影响面部区域的大血管畸形可能令人痛苦,需要精心管理才能获得满意的结果并防止复发。这里,我们介绍了一个40岁的男性,他的右侧面部有一个逐渐增长的肿瘤样肿块,从眶周区延伸到下巴。他被诊断患有血管畸形,通过对比增强的磁共振成像进一步证实了这一点。最终,他接受了手术切除的病灶,并进行了厚薄的皮肤移植。该病例的手术处理由于病变的巨大和复杂而具有挑战性,特别是因为它位于面部区域。这个独特的病例报告强调了诊断成像技术和有效的手术管理在解决大血管畸形中的重要性。尤其是那些影响面部区域的人,同时优先考虑理想的美容效果。
    Vascular malformations are rare congenital abnormalities of blood vessels that persist throughout life. Large vascular malformations affecting the facial region can be distressing and require meticulous management to achieve satisfactory outcomes and prevent recurrence. Here, we present a case of a 40-year-old man with a progressively growing tumor-like mass on the right side of his face, extending from the periorbital region to the chin. He was diagnosed with vascular malformations, which was further confirmed with contrast-enhanced magnetic resonance imaging. Eventually, he underwent surgical excision of the lesion with a split-thickness skin graft. The surgical management of this case was challenging due to the large size and complexity of the lesion, particularly because it was located in the facial region. This unique case report highlights the importance of diagnostic imaging techniques and effective surgical management in addressing large vascular malformations, especially those affecting the facial region while prioritizing desirable cosmetic outcomes.
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  • 文章类型: Case Reports
    目前的病例报告是一名男婴,在妊娠38周时由下段剖宫产非近亲父母第二胎出生,血管充血,左腿血管变色和扩张的独特模式。股动脉和静脉的多普勒显示正常的三相流和波形,没有任何明显的管腔狭窄的证据。下肢长度也有1.5厘米的差异。使用荧光酶免疫测定筛查进行的基因检测显示出阴性筛查报告。使用畸变产物耳声发射进行的耳学筛查显示,两只耳朵的外毛细胞功能正常。该病例被诊断为先天性皮肤毛细血管扩张症(CMTC),排除遗传疾病后。它与任何其他重大健康问题无关。CMTC的诊断是基于出生时的皮肤外观,两天后不久变得更加明显。在这种情况下,没有特定的治疗是必要的,病情随时间改善.
    The current case report presents a male baby, second born to nonconsanguineous parents at 38 weeks of gestation by lower segment cesarean section, with engorged blood vessels and distinctive patterns of discoloration and dilation of blood vessels on the left leg. A Doppler of the femoral artery and vein showed normal triphasic flow and waveforms without any evidence of significant luminal stenosis. There was also a lower limb length discrepancy of 1.5 cm. Genetic testing using fluorometric enzyme immunoassay screening revealed a negative screening report. Otologic screening using distortion product otoacoustic emissions revealed normal functioning of outer hair cells in both ears. The case was diagnosed as cutis marmorata telangiectatica congenita (CMTC), after ruling out genetic diseases. It was not associated with any other significant health problems. The diagnosis of CMTC was based on the appearance of the skin at birth, which became more noticeable shortly after two days. In this case, no specific treatment was warranted and the condition improved with time.
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  • 文章类型: Case Reports
    下腔静脉(IVC)的发育不全是一种罕见的先天性异常,与广泛的侧支循环的发展有关,目的是补偿右心室的血液回流不足。这种侧支循环倾向于出现静脉高压并伴有血瘀和血栓形成。大多数病例是无症状的,并且是偶然诊断的。我们报告了一名28岁男子的病例,该男子表现为双侧深静脉血栓形成(DVT),这是IVC发育不全的首次表现。经过多学科讨论,我们决定无限期维持抗凝治疗。IVC发育不全应被认为是年轻男性DVT的原因,双侧和近端血栓形成,无其他危险因素。这种疾病的稀有性使其治疗方法变得复杂。
    Agenesis of the inferior vena cava (IVC) is a rare congenital anomaly that is associated with the development of extensive collateral circulation with the aim of compensating for the inadequate return of blood to the right ventricle. This collateral circulation predisposes to the emergence of venous hypertension with stasis and thrombus formation. Most cases are asymptomatic and are diagnosed incidentally. We report the case of a 28-year-old man who presented with bilateral deep vein thrombosis (DVT) as the first manifestation of agenesis of the IVC. We decided to maintain anticoagulation for an indefinite period of time after a multidisciplinary discussion. IVC agenesis should be considered a cause of DVT in young men, with bilateral and proximal thrombosis and without other risk factors. The rarity of the condition makes its therapeutic approach complex.
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  • 文章类型: Case Reports
    A persistent sciatic artery (PSA) is a rare congenital vascular anomaly with an extremely low incidence of about 0.04%-0.06%. It is due to the persistence of the embryological axial limb artery, representing a continuation of the internal iliac artery into the thigh through the greater sciatic foramen below the piriformis muscle and down the thigh alongside the sciatic nerve. In normal embryologic development of the lower limb, the axial artery normally regresses after week 12. Persistent sciatic artery is often asymptomatic until a complication develops, it can be classified into two types, complete and incomplete. PSA can cause serious lower limb complications such as acute or critical limb ischemia.
    RésuméUne artère sciatique persistante (APS) est une anomalie vasculaire congénitale rare avec une incidence extrêmement faible d’environ 0,04 % à 0,06 %. Cela est dû à la persistance de l’artère axiale embryologique des membres, représentant une continuation de l’artère iliaque interne dans la cuisse à travers la grande foramen sciatique sous le muscle piriforme et le long de la cuisse le long du nerf sciatique. Dans le développement embryologique normal de la partie inférieure membre, l’artère axiale régresse normalement après la semaine 12. L’artère sciatique persistante est souvent asymptomatique jusqu’à ce qu’une complication se développe, elle peut être classés en deux types, complets et incomplets. Le PSA peut entraîner des complications graves des membres inférieurs telles qu’une ischémie aiguë ou critique des membres.
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  • 文章类型: Case Reports
    背景:动脉弯曲综合征是一种罕见的常染色体隐性遗传疾病,可导致身体结缔组织功能丧失,这是由于溶质载体家族2成员10(SLC2A10)基因的突变。ATS更可能发生在包括主动脉和肺动脉在内的大中型动脉中。这种综合征导致动脉拉长和弯曲,这种曲折扰乱血液循环,导致狭窄和缺乏流向器官的血液,这种慢性湍流增加了动脉瘤发展的风险。解剖和缺血事件。
    方法:一名2岁的阿拉伯女性儿童在新生儿时被诊断出患有影响肺动脉的ATS,由于肺动脉狭窄的发展,在2岁时接受了肺动脉外科重建,左肺动脉的峰值梯度为73mmHg,峰值速度为4.3m/s,右肺动脉的峰值梯度为46mmHg,峰值速度为3.4m/s,导致右心室高血压。手术修复后,左肺动脉的峰值压力梯度为20mmHg,右肺动脉的峰值压力梯度为20mmHg。
    结论:ATS是一种罕见的遗传病,影响大动脉,尤其是肺动脉,引起狭窄和曲折的血管,这些血管可能是中央分支或远端外周分支,导致严重的右心室功能障碍和高血压。我们认为,与经导管入路相比,尤其是在涉及外周动脉时,手术治疗可提供最佳结果。一些挑战和打嗝可能会发生,尤其是肺再灌注损伤,需要进行相应的诊断和治疗。
    BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events.
    METHODS: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg.
    CONCLUSIONS: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.
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