Systemic lupus erythematosus associated with moyamoya disease - Case report and review of the literature

Moyamoya disease is a rare chronic cerebrovascular occlusive disease diagnosed by angiogram with primary features consisting of bilateral occlusion of the internal carotid arteries and of the vessels forming the circle of Willis, and subsequent development of small collateral vessels. These collateral vessels may rupture, leading to the clinical presentation of transient ischemic attacks and intracerebral hemorrhage. We describe a young Korean woman with known moyamoya disease presenting with her second major vascular event who was also found to have active, undiagnosed systemic lupus erythematosus (SLE). SLE, with or without anti-cardiolipin, or anti-cardiolipin antibody syndrome, can be associated with "pseudo-moyamoya" (unilateral central nervous system disease). SLE, anti-cardiolipin antibody syndrome, pseudo-moyamoya, or moyamoya disease can all present in young women with intracerebral events, making diagnosis difficult. Our patient presented with fatigue, anemia, leukopenia, and a positive anti-nuclear antibody. Her physicians initially entertained a diagnosis of SLE, but when she developed a thalamic infarct, this diagnosis was abandoned, because a cerebral angiogram revealed a bilateral "cigarette smoke" appearance of blood vessels characteristic of moyamoya disease rather than the similar unilateral findings more typical of pseudo-moyamoya. Subsequently, it became clear that our patient had full-blown SLE and moyamoya disease. The clinician should be aware of the diagnosis of moyamoya because patients with this disease may present with intracerebral events associated with features of autoimmune disease, even in the absence of SLE. The concurrent development of SLE may confound the diagnosis even further.