■多发性遗传性骨外生症是一种罕见的常染色体显性遗传性骨疾病,在西方人群中以1:50,000至1:100,000的发病率主要影响男性。病因归因于EXT基因群的突变,特别是导致骨软骨瘤形成的EXT1和EXT2。诊断通常在儿童时期建立。然而,血管并发症极为罕见,但可能致命。因此,及时诊断和治疗对此类患者至关重要。
方法:我们介绍了一例37岁的中东男性,患有多发性遗传性骨外生症,在入院前经历了突然发作的左下肢疼痛持续一个月。它与同侧下肢的寒冷和感觉异常有关。术前放射学检查发现了多发性遗传性外结瘤后的pop假性动脉瘤。
■通过开放手术,血管灌注成功恢复,随后通过大隐静脉移植进行上至膝下动脉吻合。此外,骨软骨瘤被完全切除以限制另一次血管损伤的复发。以下组织病理学分析证实了MHE结果的骨软骨瘤的诊断。
结论:多发性遗传性外结瘤是导致假性动脉瘤的罕见病例。这一事件强调需要进一步的文件来帮助建立及时的诊断和进行适当的干预。在多学科方法中考虑这种病理学可确保适当的治疗。经过全面的文献综述,我们的案例是我国出版文献中第一个强调其价值和稀有性的案例。
UNASSIGNED: Multiple Hereditary Exostoses is a rare autosomal dominant bone disorder that predominantly affects males at an incidence of (1:50,000 to 1:100,000) in Western populations. The etiology is owed to mutations in the EXT gene group, specifically EXT1 and EXT2 which cause the formation of Osteochondromas. Diagnosis is typically established in childhood. Nevertheless, vascular complications are extremely rare while being potentially fatal. Therefore, timely diagnosis and treatment are vital for such patients.
METHODS: We present the case of a 37-year-old Middle Eastern male with Multiple Hereditary Exostoses who experienced sudden-onset left lower limb pain persisting for a month prior to admission. It was associated with coldness and paresthesia of the ipsilateral lower limb. The presurgical radiological workup uncovered a popliteal pseudoaneurysm subsequent to Multiple Hereditary Exostoses.
UNASSIGNED: Through open surgery, the vascular perfusion was successfully restored, and a subsequent supra- to infra-geniculate popliteal artery anastomosis via saphenous vein grafting was done. Furthermore, the Osteochondroma was utterly resected to limit recurrence of another vascular injury. The following histopathological analysis confirmed the diagnosis of an Osteochondroma as a result of MHE.
CONCLUSIONS: Multiple Hereditary Exostoses is a rare occurrence leading to pseudoaneurysms. This event underscores the need for further documentation to aid in establishing a prompt diagnosis and carrying out suitable interventions. Considering this pathology in a multidisciplinary approach ensures proper treatment. Following a comprehensive literature review, our case stands as the first case in the published literature from our country which emphasizes its value and rarity.