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

Moyamoya disease is a rare chronic cerebrovascular occlusive disease diagno sed by angiogram with primary features consisting of bilateral occlusion of the internal carotid arteries and of the vessels forming the circle of Wil lis, and subsequent development of small collateral vessels. These collater al vessels may rupture, leading to the clinical presentation of transient i schemic attacks and intracerebral hemorrhage. We describe a young Korean wo man with known moyamoya disease presenting with her second major vascular e vent who was also found to have active, undiagnosed systemic lupus erythema tosus (SLE). SLE, with or without anti-cardiolipin, or anti-cardiolipin ant ibody syndrome, can be associated with "pseudo-moyamoya" (unilateral centra l nervous system disease). SLE, anti-cardiolipin antibody syndrome, pseudo- moyamoya, or moyamoya disease can all present in young women with intracere bral 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, b ecause a cerebral angiogram revealed a bilateral "cigarette smoke" appearan ce of blood vessels characteristic of moyamoya disease rather than the simi lar unilateral findings more typical of pseudo-moyamoya. Subsequently, it b ecame clear that our patient had full-blown SLE and moyamoya disease. The c linician should be aware of the diagnosis of moyamoya because patients with this disease may present with intracerebral events associated with feature s of autoimmune disease, even in the absence of SLE. The concurrent develop ment of SLE may confound the diagnosis even further.