Clinical and Immunopathological Features of Moyamoya Disease

Abstract

BackgroundMoyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis or occlusion of the terminal portion of internal carotid arteries and the formation of a vascular network at the base of the brain. The pathogenesis of MMD is still unclear.Methodology/Principal FindingsWe retrospectively analyzed clinical data for 65 consecutive patients with MMD in our institutions and evaluated the histopathological and immunohistochemical findings of intracranial vessels from 3 patients. The onset age distribution was found to have 1 peak at 40–49 year-old age group, no significant difference was observed in the female-to-male ratio (F/M = 1.2). Intracranial hemorrhage was the predominant disease type (75%). Positive family history was observed in 4.6% of patients. Histopathological findings were a narrowed lumen due to intimal fibrous thickening without significant inflammatory cell infiltration, and the internal elastic lamina was markedly tortuous and stratified. All 3 autopsy cases showed vacuolar degeneration in the cerebrovascular smooth muscle cells. Immunohistochemical study showed the migration of smooth muscle cells in the thickened intima, and aberrant expression of IgG and S100A4 protein in vascular smooth muscle cells. The Complement C3 immunoreactivity was negative.Conclusion/SignificanceThis study indicated that aberrant expression of IgG and S100A4 protein in intracranial vascular wall of MMD patients, which suggested that immune-related factors may be involved in the functional and morphological changes of smooth muscle cells, and finally caused the thickened intima. A possible mechanism is that deposits of IgG in the damaged internal elastic lamina may underlie the disruption of internal elastic lamina, which facilitated S100A4 positive SMCs migrated into intima through broken portions of the internal elastic lamina, resulting in lumen stenosis or occlusion, leading to compensatory small vessels proliferation.

Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience

“…On the other hand, we observed no significant difference in the female‐to‐male ratio between patients with and without MMS (ratio = 1). This result confirmed the findings of Lin et al (). However, other studies reported a female dominance in patients with MMD in the United States (female/male = 2.5) and Japan (female/male = 1.8) (Kuriyama et al, ).…”

Asymptomatic Cerebral Microbleeds in Adult Patients with Moyamoya Disease: A Prospective Cohort Study with 2 Years of Follow-Up

“…In our study, 85 patients with MMD were enrolled with a female-male ratio of 1.13:1, which is consistent with other published cohorts in China that varied from 0.77:1 to 1.3:1 [19,20,21,22,23,24]. However, previous studies in Japan demonstrated a ratio of approximately 2:1 [25,26].…”

Systemic lupus erythematosus associated with moyamoya syndrome: a case report and literature review

“…Lin et al found that immune-related factors may be involved in the functional and morphological changes of smooth muscle cells that led to the formation of a thickened intima. 10 The endothelial cell interaction with these antibodies has been proposed as a probable mechanism that predisposes to thrombosis. 4 From the review of Table 1, we found that MMS occurred later than SLE, and controlling the symptoms of SLE was important.…”