Zhong Wayne, Mehta Amit, Haberli Nicholas, Elmashad Ahmed, Forman Rachel, Kim Jennifer
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.
Department of Neurology, Division of Vascular Neurology, Yale University School of Medicine, New Haven, CT, USA.
Neurohospitalist. 2024 Nov 21:19418744241299068. doi: 10.1177/19418744241299068.
Moyamoya disease (MMD) is a rare pathological state characterized by progressive stenosis of the terminal portion of the internal carotid arteries (ICA). Complications include both ischemic and hemorrhagic strokes, for which there is no curative treatment for MMD. Early diagnosis with surgical intervention is vital for there is no definitive treatment. Due to the bimodal age distribution, moyamoya should be considered for patients presenting with stroke and supraclinoid ICA vasculopathy.
We present a case of a 23-year-old female who presented with left arm weakness and sudden onset thunderclap headache. Upon further questioning, it was revealed that the patient had started an estrogen-containing birth control two weeks prior to presentation. Neuroimaging at our tertiary care center demonstrated simultaneous ischemic and hemorrhagic strokes in the bilateral hemispheres associated with vasculopathy seen in both invasive and noninvasive cerebrovascular imaging. She was diagnosed with idiopathic moyamoya disease since her serum and cerebrospinal fluid studies did not reveal any obvious precipitators to suggest moyamoya syndrome (MMS).
There were no obvious precipitating factors identified in the extensive workup for this patient. Therefore, further secondary prevention is difficult for this otherwise young and healthy individual. While there is data to support the use of antiplatelet medications for the prevention of ischemic stroke secondary to intracranial atherosclerotic disease, there are no clear guidelines for the treatment of MMD that simultaneously causes ischemic and hemorrhagic stroke. Further research on the pathophysiology and treatment modalities for MMD are needed to guide clinicians in treating this complex disease.
烟雾病（MMD）是一种罕见的病理状态，其特征为颈内动脉（ICA）末端进行性狭窄。并发症包括缺血性和出血性中风，目前对于烟雾病尚无治愈性治疗方法。由于缺乏明确的治疗手段，早期诊断并进行手术干预至关重要。鉴于其双峰年龄分布，对于出现中风和床突上段ICA血管病变的患者应考虑烟雾病。
我们报告一例23岁女性患者，表现为左臂无力和突发霹雳样头痛。进一步询问发现，该患者在就诊前两周开始服用含雌激素的避孕药。在我们的三级医疗中心进行的神经影像学检查显示，双侧半球同时出现缺血性和出血性中风，在有创和无创脑血管成像中均可见血管病变。由于其血清和脑脊液检查未发现任何明显的诱发因素提示烟雾病综合征（MMS），故诊断为特发性烟雾病。
在对该患者进行的全面检查中未发现明显的诱发因素。因此，对于这个原本年轻健康的个体而言，进一步的二级预防较为困难。虽然有数据支持使用抗血小板药物预防颅内动脉粥样硬化疾病继发的缺血性中风，但对于同时导致缺血性和出血性中风的烟雾病，尚无明确的治疗指南。需要对烟雾病的病理生理学和治疗方式进行进一步研究，以指导临床医生治疗这种复杂疾病。
