“…97 In addition, the literature contains several cases of later-onset MMD in adult populations. 98–104 An example of MMD associated with NF1 is provided in Figure 6. Figure 6.A 23-year-old female with neurofibromatosis type 1 (NF1) presented with multiple episodes of left-sided hand symptoms thought to be related to opercular hypoperfusion.…”
Section: Other Neurovascular Manifestationsmentioning
confidence: 99%
“…97 In addition, the literature contains several cases of later-onset MMD in adult populations. [98][99][100][101][102][103][104] An example of MMD associated with NF1 is provided in Figure 6.…”
Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.
“…97 In addition, the literature contains several cases of later-onset MMD in adult populations. 98–104 An example of MMD associated with NF1 is provided in Figure 6. Figure 6.A 23-year-old female with neurofibromatosis type 1 (NF1) presented with multiple episodes of left-sided hand symptoms thought to be related to opercular hypoperfusion.…”
Section: Other Neurovascular Manifestationsmentioning
confidence: 99%
“…97 In addition, the literature contains several cases of later-onset MMD in adult populations. [98][99][100][101][102][103][104] An example of MMD associated with NF1 is provided in Figure 6.…”
Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.
“…Moyamoya vasculopathy is also likely to occur in patients with other forms of RASopathies. Other forms of RASopathies: Cardiofaciocutaneous syndrome and Von Recklinghausen disease also reported to have a higher risk of having moyamoya vasculopathy [37], [38].…”
BACKGROUND: Moyamoya disease (MMD) is a peculiar disease, characterized by progressive steno-occlusion of the distal ends of bilateral internal carotid arteries and their proximal branches. Numerous studies of MMD investigated as a singular pathway, thus overlooked the complexity of MMD pathobiology.
AIM: In this study, we sought to investigate the gene expression in the involved arteries to reveal the novel mechanism of MMD.
MATERIALS AND METHODS: Eight middle cerebral artery (MCA) specimens were obtained from six patients underwent surgical procedure superficial temporal artery to MCA (STA-MCA bypass) for MMD and two control patients. We performed RNA extraction and microarray analysis with Agilent Whole Human Genome DNA microarray 4x44K ver.2.0 (Agilent Tech., Inc., Wilmington, DE, USA).
RESULTS: From 42,405 gene probes assayed, 921 gene probes were differentially regulated in MCA of patients with MMD. Subsequent pathway analysis with PANTHER database revealed that angiogenesis, inflammation, integrin, platelet-derived growth factor (PDGF), and WNT pathways were distinctly regulated in MMD. Among genes in aforementioned pathways, SOS1 and AKT2 were the mostly distinctly regulated genes and closely associated with RAS pathway.
CONCLUSION: The gene expression in MCA of patients with MMD was distinctly regulated in comparison with control MCA; presumably be useful for elucidating MMD pathobiology.
“…Multiple simultaneous intracerebral hemorrhages (MSIH) is rare phenomenon, accounting for ~3% of all intracranial hemorrhage events (1). MSIH remains intriguing regarding the causes and MMD can be caused by a variety of factors, including hypertension, cerebral vasculitis, sympathetic nerve stimulants, drugs that affect blood coagulation, brain tumors, cerebral amyloidosis, venous sinus thrombosis and coagulation disorders, in addition to other unexplained factors (2,3).…”
Multiple simultaneous intracerebral hemorrhages (MSIH) caused by Moyamoya disease (MMD) is extremely rare. To date, the clinical manifestations, imaging characteristics and mechanism of MMD-induced MSIH have not yet been elucidated. In order to improve the understanding on such cases, the present study described a rare case of MSIH caused by MMD. A 40-year-old female patient with no history of hypertension or diabetes mellitus experienced a sudden headache followed by coma. Cranial computed tomography (CT) examination revealed MSIH in the left frontal area, temporal lobe and basal ganglia. CT angiography and digital subtraction angiography examinations revealed typical characteristics of MMD. Subsequent to excluding disorders of the blood system and blood coagulation, we concluded that the present case of MSIH was caused by MMD. Hematoma evacuation and decompressive craniectomy were performed with satisfactory results. In addition, after reviewing previous MSIH cases in the literature, potential mechanisms of MMD-mediated MSIH were considered. In conclusion, MMD should be considered as a possible cause of MSIH during diagnosis and treatment. MMD can lead to pathological changes in the fragility of small arteries; therefore, rupture and hemorrhage at one site may induce a transient increase in blood pressure, causing the rupture of small arteries at other sites, and thus leading to MSIH. Hematoma evacuation and decompression should be conducted in selective cases of MMD-induced MSIH in order to achieve a good prognosis.
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