Carpintieri Sabrina, Uyar Elias, Anand Christian, Buryk Yaroslav
Medical School, Ross University School of Medicine, Miramar, USA.
Medical School, St. George's University School of Medicine, True Blue, GRD.
Cureus. 2024 Aug 20;16(8):e67302. doi: 10.7759/cureus.67302. eCollection 2024 Aug.
Sickle cell disease (SCD) is a hereditary hemoglobinopathy that can lead to progressive vasculopathy, increasing the risk of cerebrovascular complications. Moyamoya syndrome (MMS), a rare disorder characterized by stenosis of the internal carotid arteries, can occur in SCD patients due to chronic endothelial damage and inflammation. The coexistence of these conditions can result in severe cerebrovascular complications, presenting unique diagnostic and therapeutic challenges. We present a 35-year-old African American male with a complex interplay of advanced SCD and MMS, manifesting as extensive cerebrovascular disease and recurrent ischemic strokes. A CT angiogram (CTA) of the head showed diffusely decreased caliber of the right M1 segment, appearing worse compared to prior studies. CTA of the head and neck demonstrated a new cut-off of the distal right M3 segment with an asymmetric paucity of arborizing vessels within the right middle cerebral artery (MCA) distribution, consistent with progressive sickle cell vasculopathy and also demonstrated abnormal dilated collateral vessels. Further imaging with MRI exhibited multiple prior ischemic strokes in various vascular territories despite previous revascularization surgery with a left superficial temporal artery to MCA bypass. The patient's progressive cerebrovascular disease was attributed to sickle cell vasculopathy exacerbated by MMS, resulting in compromised cerebral perfusion through distinct pathological mechanisms. Management involved a multidisciplinary treatment approach, including chronic transfusions, antiplatelet therapy, surgical revascularization with extracranial-intracranial bypass, seizure management, and neuropsychiatric support. Despite maximal therapy, the patient experienced recurrent cerebrovascular events and progressive neurological deficits, highlighting the challenges in controlling these intertwined disease processes. It signifies the importance of early recognition of this rare co-occurrence and implementation of prompt multidisciplinary treatment to improve outcomes.
镰状细胞病（SCD）是一种遗传性血红蛋白病，可导致进行性血管病变，增加脑血管并发症的风险。烟雾病综合征（MMS）是一种以内颈动脉狭窄为特征的罕见疾病，由于慢性内皮损伤和炎症，可发生于SCD患者。这些情况的共存可导致严重的脑血管并发症，带来独特的诊断和治疗挑战。我们报告一名35岁的非裔美国男性，患有晚期SCD和MMS的复杂相互作用，表现为广泛的脑血管疾病和复发性缺血性中风。头部CT血管造影（CTA）显示右侧M1段管径弥漫性减小，与先前研究相比情况更糟。头颈部CTA显示右侧M3段远端出现新的截断，右侧大脑中动脉（MCA）分布区内分支血管不对称稀少，符合进行性镰状细胞血管病变，还显示了异常扩张的侧支血管。尽管之前进行了左侧颞浅动脉至MCA搭桥的血运重建手术，但MRI进一步成像显示在各个血管区域有多处既往缺血性中风。患者进行性脑血管疾病归因于MMS加重的镰状细胞血管病变，通过不同的病理机制导致脑灌注受损。治疗采用多学科方法，包括慢性输血、抗血小板治疗、颅外-颅内搭桥手术血运重建、癫痫管理和神经精神支持。尽管进行了最大程度的治疗，患者仍经历了复发性脑血管事件和进行性神经功能缺损，突出了控制这些相互交织的疾病过程的挑战。这表明早期识别这种罕见的共病情况并及时实施多学科治疗以改善预后的重要性。
