Probable Moyamoya Disease Research Articles

Long-term mortality in patients with moyamoya angiopathy according to stroke presentation type in South Korea.

Incidence, prevalence, and long-term survival outcomes in patients with moyamoya angiopathy (MMA) according to stroke presentation type and age group have not been clearly elucidated. We investigated mortality in patients with MMA (moyamoya disease, probable moyamoya disease, moyamoya syndrome) of whose International Classification Disease 10 code was I67.5 from 2006 to 2015 using the Korean National Health Insurance database. MMA at diagnosis was classified into 3 types (ischemic, hemorrhagic, and asymptomatic or else) according to stroke presentation. Survival analysis was performed according to stroke presentation type and age group (< 15years and ≥ 15years) using the Kaplan-Meier method. There were 12,146 newly diagnosed moyamoya cases, with a female-to-male ratio of 1.81; the ischemic type was identified in 3671 (30.2%) patients, the hemorrhagic type in 2449 (20.2%) patients, and the asymptomatic or else type in 6026 (49.6%) patients. The mean age at diagnosis according to stroke presentation was 33.1 (± 14.8) years in asymptomatic or else type, 41.2 (± 17.3) years in ischemic type, and 45.4 (± 14.3) years in hemorrhagic type (P < 0.001). The 10-year survival rates in ischemic-, hemorrhagic-, and asymptomatic or else-type patients were 88.9%, 76.3%, and 94.3%, respectively (log-rank test; P < 0.001). Pediatric MMA (< 15years) and adult MMA (≥ 15years) showed different survival curves according to stroke presentation type (log-rank test; P = 0.017, P < 0.001, respectively). Our study showed that moyamoya patients had different diagnosis ages and distinct survival courses according to stroke presentation type. Adult moyamoya patients with hemorrhagic presentation had the worst survival outcomes.

Occlusion of the Anterior Cerebral Artery Mimicking a Cerebral Aneurysm: Clinical Presentation and Literature Review

Intracranial aneurysms may be misdiagnosed with other vascular lesions such as vascular loops, infundibulum, or the stump of an occluded artery (very rare and reported compromising only the middle cerebral artery and the posterior circulation territory). Our aim was to describe a unique case of occlusion of an anterior cerebral artery mimicking a cerebral aneurysm in a probable moyamoya disease patient, and to highlight its clinical presentation, diagnosis, and management, and to perform an extensive literature review. A 67-year-old man suffering from recurrent dizziness for 3 months. Previous medical history was unremarkable. Brain magnetic resonance angiography (MRA) and digital subtraction angiography (DSA) demonstrated occlusion of the right middle cerebral artery (MCA) associated with a "probable moyamoya disease" and an aneurysm-like shadow protruding lesion at the anterior communicating artery (AcomA). Perfusion images showed ischemia along the right temporo-occipital lobe. Due to MCA occlusion with perfusion deficits and unspecific symptoms, we offered a right side encephalo-duro-myo-synangiosis (EDMS) and clipping of the AcomA aneurysm in one session. Intraoperatively, there was no evidence of the AcomA aneurysm; instead, this finding corresponded to the stump of the occluded right anterior cerebral artery (A1 segment). This segment appeared to be of yellowish color due to atherosclerosis and lacked blood flow. The patient underwent as previously planned a right side EDMS and the perioperative course was uneventful without the presence of additional ischemic attacks. Arterial branch occlusions can sometimes present atypical angiographic characteristics that can mimic a saccular intracranial aneurysm. It is relevant to consider this radiographic differential diagnosis, especially when aneurysm treatment is planned.

Unilateral moyamoya disease mimicking intracranial hemorrhage in a pediatric patient: Surgical treatment with encephalo-duro-myo-synangiosis in a progressive disease

Abstract Background Moyamoya disease (MMD) is characterized by progressive bilateral internal carotid artery stenosis and its distal branches. When angiographic findings are unilateral, the diagnosis is considered to be probable MMD. Surgery is recommended treatment of patients with deterioration caused by progressive cerebral ischemic events. Different techniques have been described, and the encephalo-duro-myo-synangiosis (EDMS) procedure is highly recommended for patients with rapid deterioration. A case of unilateral MMD mimicking intracranial hemorrhage in a pediatric patient is reported. Case description A 14-year-old girl was referred to our center due to a decreased level of consciousness. Physical examination revealed right-sided hemiparesis; however, a brain CT scan showed multiple hyperdense masses mimicking a hemorrhagic lesion. A brain MRI showed a large hypointensity in the temporoparietal, suggesting a vascular lesion. In all children that exhibit encephalitis, vascular events such as MMD should be considered. An emergency surgical EDMS procedure was performed, and the patient regained consciousness and exhibited no TIAs during the follow-up period. A postoperative brain MRI showed an improvement in brain vascularity. Conclusion After EDMS, a considerable degree of neurological recovery was observed in our patient with rare unilateral MMD mimicking intracranial hemorrhage. We found that the progression of clinical improvement after indirect revascularization in our case was due to EDMS. Surgical treatment with EDMS is reasonable for MMD because it allows for flexible revascularization that adequately addresses the requirement for new blood supply in the ischemic lesion. The EDMS procedure is followed by an observation period to preclude the possibility of the patient developing definite MMD.

Pattern of Presentation of Moyamoya Disease (MMD) Patients in Bangladesh: Experience from Tertiary Care Hospitals

Background: Moyamoya disease is rare but not uncommon throughout the world. Clinical profile of childhood moyamoya (MMD) disease is not well delineated in Bangladesh. Methods: We conducted this cross sectional study in pediatrics and neurology department of Dhaka Medical College Hospital that involved 20 patients of MMD over a period of one year. Result: Among the cases about 2/3rd(65%) of the patients were within 8 years age at onset with mean age of the patients being 7.24(±3.34) years at onset with a male: female ratio of 1.2:1. Almost half of the patients had past history of intermittent episodes TIA which precipitated by hyperventilation and crying (p &lt;0.05). Important history related to prothombotic conditions (Family History of stroke, MI, Hyperlipidemia, Obesity, Coagulation disorders) were also statistically significant (p&lt;0.05). Sixteen patients in our series exhibited hemiparesis and out of them 4(25%) were alternating (p&lt;0.05), followed by dysarthria at onest 13(65%). Convulsions and visual impairment were seen in 5 (25%) different patients, 3(15%) different patients had altered consciousness, involuntary movements, ataxia, headache and cognitive impairment at onset. We observed intellectual impairment in and psycho–motor retardation in two different patients. MRA abnormalities were found in 19 cases out of 20. Among 19 cases bilateral ICA stenosis with collaterals seen in 18 cases (90%), MCA stenosis along with bilateral ICA stenosis were seen in 16(80%) cases, ACA stenosis along with bilateral ICA stenosis were seen in 07(35%) cases, PCA stenosis along with bilateral ICA stenosis were observed in 05(25%) cases. No collaterals and without typical “puff of smoke” appearance was seen in 01(5%) and unilateral ICA stenosis with collaterals was seen in 01(5%) cases (probable MMD). Diagnostic Cerebral DSA was done in 07 (35%) patients and typical angiographic findings of Moyamoya disease were present in all of them. Conclusion: C-MMD may have various presentations. Stroke and TIA are most common presentation. MRA may well delineate the characteristics angrographic abnormality. Bangladesh Journal of Neuroscience 2017; Vol. 33 (1): 24-29

Abstract WP280: Caveolin-1, Ring Finger Protein 213, and Endothelial Function in Moyamoya Disease

Background: Moyamoya disease (MMD) is a unique cerebrovascular occlusive disease of unknown etiology. Ring finger protein 213 (RNF213) was identified as a susceptibility gene for MMD in East Asian. However, the pathogenesis of MMD is still unclear. Methods: We prospectively analyzed clinical data for 139 patients with MMD (108 definite MMD, 31 probable MMD) and 61 patients with intracranial atherosclerotic stroke (ICAS), and 68 healthy subjects. We compared the genetic (RNF213 variant) and protein biomarkers for caveolae (caveolin-1), angiogenesis (vascular endothelial growth factor [VEGF] and receptor [VEGFR2], and antagonizing cytokine [endostatin]) and endothelial dysfunction (asymmetric dimethylarginine [ADMA], nitric oxide and its metabolites [nitrite and nitrate]), between patients with MMD and ICAS. We then performed the path analysis to evaluate whether a certain protein biomarker mediates the association the genetic and MMD. Results: Caveolin-1 level was decreased in patients with MMD and this level was markedly decreased in RNF213 variant carriers. Circulating factor such as VEGF and receptor were not different among the groups. Markers for endothelial dysfunction were significantly higher in patients with ICAS, but normal in MMD. The path analysis showed that the presence of the RNF213 variant was associated with caveolin-1 level that led to MMD. The level of combined marker of MMD (caveolin-1) and ICAS (ADMA, marker for endothelial dysfunction) predicted MMD with a good sensitivity and specificity. Conclusions: Our results indicate that MMD is primarily caveolae disorder, dysregulation of endothelial vesicular trafficking and signal transduction, but not related to endothelial dysfunction or dysregulation of circulating cytokines.

Giant arteriovenous malformation associated with unilateral moyamoya disease in a child: case report

Background Cerebral AVMs associated with definite or probable moyamoya disease is a very rare situation, and the association between them is unclear. Case Description An 8-year-old boy presented with repeated transient motor weakness in the left arm and leg for 1 year. On his admission, physical examination and neuropsychological testing showed no exact neurological deficits. Magnetic resonance imaging showed a giant AVM in the right basal ganglia and thalamus. Angiography revealed occlusion of left ICA and bilateral PCA with well-developed basal collateral vessels. A giant AVM was also noticed in angiography, which was filled by basal collateral vessels from both left anterior circulation and posterior circulation. The diagnosis of unilateral moyamoya disease combined with a Spetzler-Martin grade V AVM was made. The patient was managed nonoperatively and discharged with close follow-up. Conclusion We present a rare case of giant AVM-associated with unilateral moyamoya disease, and giant AVM makes planning any aggressive treatments difficult.

Co-occurrence of a cavernous malformation and contralateral moyamoya

We report a young woman who had an intracerebral hemorrhage in her left caudate head from a ruptured cavernous malformation (CM).1 During her workup, we found an asymptomatic, moyamoya-like occlusion of her right middle cerebral artery.2 A 37-year-old Brazilian woman with a history of recurrent frontal headache presented to our emergency room complaining of new, worsening bioccipital pain for 1 week with nausea, stiff neck, and intermittent right hand weakness. Detailed history revealed no risk for neurovascular disease. She was normotensive with no neurologic deficits. Non-contrast head CT revealed an area of hyperattenuation at the left caudate head consistent with a 20 mL intracerebral hemorrhage (figure, A, page 1602). CT angiogram of the neck and head revealed neither a vascular lesion nor evidence of active contrast extravasation in the area of the hemorrhage; however, it did reveal, contralateral to the hemorrhage, a complete interruption of the proximal portion of the right middle cerebral artery along with well-developed collateral vessels (figure, B), fulfilling criteria for probable moyamoya disease.2 Figure. Imaging and pathology. (A) An axial cut through the basal ganglia demonstrates the hematoma at the time of presentation. (B) Also at presentation, CT angiography …

Adult moyamoya disease in the asymptomatic Japanese population

Moyamoya disease (MMD) is a spontaneous occlusive disease of the Willis circle. This study evaluated the presence of the radiological hallmarks of adult MMD on a “brain check-up” (BC) using MRI and MR angiography, in Japan. BC was offered to 11,402 healthy subjects (7570 men and 3832 women) between January 1997 and November 2003. The mean age of all subjects was 53.2 years (SD 11.1); the mean age of men was 53.2 years (SD 10.9) and women 53.2 years (SD 11.5). MMD was diagnosed according to the criteria of the Research Committee on Spontaneous Occlusion of the Circle of Willis in Japan. Eight subjects (4 men and 4 women) were diagnosed as probable MMD without neurological deficits. Thus, the percentage of subjects with asymptomatic MMD on BC was 0.07% for the total group, 0.05% in men and 0.10% in women. The female to male ratio was 3.3:1. The mean age of the MMD patients was 54.0 years (SD 12.0); men 54.8 years (SD 12.8) and women 53.3 years (SD 13.9). Estimates of the prevalence of MMD in the Japanese population were calculated as 50.7 per 100,000 people; 28.9 in men and 94.3 in women. Five patients had a family history of definite MMD and seven had a family history of subarachnoid or intracerebral hemorrhage. MRI and angiography showed stenosis of the bilateral internal carotid arteries (ICA) in five patients and a unilateral ICA in three. Moyamoya vessels were confirmed on cerebral angiography. Our standard BC protocol is limited for the detection of moyamoya vessels in the initial stages of MMD. The present study suggests that the radiological features of MMD are asymptomatic in the early stages of the disease.

Co-morbidity of Moyamoya Disease with Graves' Disease. Report of Three Cases and a Review of the Literature

Moyamoya disease is a cerebrovascular disorder characterized by bilateral stenosis or occlusion of the terminal portions of the internal carotid arteries accompanied by typical net-like collateral vessels in the basal ganglia. Although the etiology of moyamoya disease remains unknown, hereditary and immunogenic as well as hemodynamic factors have been implicated in the underlying mechanism of moyamoya disease. We report two patients with confirmed moyamoya disease and a patient with probable moyamoya disease complicated with Graves' disease. We reviewed the literature and summarized 23 cases of moyamoya disease or probable moyamoya, coexisting with Graves' disease.

Adult unilateral moyamoya disease with familial occurrence in two definite cases: a case report and review of the literature

We documented an interesting case of adult "unilateral (probable)" moyamoya disease displaying familial occurrence in two "definite" cases. A 55-year-old female presented with motor aphasia, involuntary movement of the right hand and right homonymous hemianopia due to cerebral infarction. Cerebral angiography revealed typical angiographic findings on the left side and normal findings on the right side; consequently, the patient was diagnosed with probable moyamoya disease. Previously, her mother and nephew had been diagnosed with definite moyamoya disease with bilateral involvement. The patient continued to exhibit unilateral involvement on angiography for more than 4 years. Clinical features such as absence of familial occurrence suggest that most cases of probable moyamoya disease are distinct from definite cases, especially in adults. To the best of our knowledge, this report appears to be the first involving an adult probable case characterized by familial occurrence. The literature pertaining to adult probable moyamoya disease was reviewed and the etiology of this disease was discussed.

Hemodynamic Reserve and High-Intensity Transient Signals in Moyamoya Disease

Background: Moyamoya disease (MMD) as a rare obstructive cerebrovascular disease is assumed to present with ischemic symptoms due to hemodynamic compromise. However, alternative mechanisms, such as cerebral embolism in low-flow territories, may also contribute to clinical symptoms. The incidence of high-intensity transient signals (HITS) and the degree of hemodynamic compromise were studied in symptomatic patients with MMD. Methods: Twenty-four patients (17 female, 7 male; mean age 33 ± 13 years) with clinical symptoms attributable to cerebral ischemia and the angiographic features of MMD (21 definite form, 3 probable MMD; 22 patients ‘late stage’ MMD, 2 patients ‘early stage’ MMD) in 45 affected hemispheres were enrolled in the present study. Patients underwent parallel estimation of hemodynamic compromise by means of functional blood flow (rCBF) studies using SPECT, PET or xenon-CT and HITS detection by TCD. Results: Hemodynamic compromise was observed in 37/40 (92%) hemispheres studied. During TCD monitoring, HITS were detected in 3 patients (12.5%), with a total frequency of 3 (6.6%) in the 45 hemispheres investigated. All patients with HITS showed hemodynamic compromise in functional rCBF studies. In these patients, HITS were recorded ipsilateral to the symptomatic hemisphere. HITS occurred in late stage MMD patients only once, while both cases with early stage MMD demonstrated multiple HITS. Conclusions: The incidence of HITS in patients with MMD appears to be lower compared to patients with atherosclerotic or atherothrombotic arterial obstructions. In addition, ischemia-related symptoms in ‘late stage’ MMD seem to be caused by hemodynamic compromise in the majority of these patients.

A modified burr-hole method in galeoduroencephalosynangiosis for an adult patient with probable moyamoya disease – case report and review of the literature

A 49-year-old woman with probable moyamoya disease was surgically treated by combined direct and indirect methods, superficial temporal to middle cerebral artery anastomosis and galeoduroencephalosynangiosis by a burr-hole method developed by Kawamoto et al. Transient ischemic attacks and motor weakness of bilateral lower extremities disappeared completely within 1 month and never recurred during 1-year follow-up. Galeoduroencephalosynangiosis by a burr-hole method appears useful for preventing ischemic damage of the territory of the anterior cerebral artery in adult patients with probable moyamoya disease.

`Angiographic Moyamoya' its definition, classification, and therapy

Are there any differences between probable Moyamoya disease and unilateral Moyamoya disease? What kinds of differences exist between definite and probable Moyamoya disease? Furthermore, according to the diagnostic criteria of Moyamoya disease, patients with systemic disorders and angiographic features similar to those of Moyamoya disease can not be diagnosed as Moyamoya disease. How should we call these? Such patients have been reported as `Moyamoya syndrome,' `quasi-Moyamoya disease', `akin-Moyamoya disease', etc. These variations of terminology including unilateral or probable Moyamoya disease have thus led to as state of confusion. In this study the previously reported cases in the literature were surveyed to clarify how these terms have been used and how we should use them correctly in the future. Since the diagnostic criteria of this disease are mainly based on angiographic findings, the term Moyamoya `syndrome' should not be used. A unilateral involvement without any known cause should be called `probable.' Because some systemic diseases commonly associated with Moyamoya disease might be genetically linked, it is better to avoid using such vague expressions as `quasi', `akin', or `pseudo.' There might be a coexistence of two diseases. It is therefore better to simply state that the angiographic findings are similar to Moyamoya disease, or a systemic disease with `angiographic Moyamoya' until the etiology of the Moyamoya disease is clarified.

Midwest experience with Moyamoya disease

A review of the cases of Moyamoya disease at two large Mid-Western United States Universities was undertaken for the purpose of assessing the epidemiology of Moyamoya disease. A total of 51 cases of Moyamoya disease were identified, with 12 cases classified as akin Moyamoya disease, nine cases of probable Moyamoya disease, and 30 cases of classic or definite Moyamoya disease. The conditions associated with akin Moyamoya were sickle cell disease, Down's syndrome, trauma, radiation, and neurofibromatosis. The mean age of presentation for probable and classic Moyamoya disease was 22 years. The sex predilection was approximately equal, with a slight female predominance. The racial background was identified in 22 of the definite cases, and included six patients with oriental inheritance, three with American Indian inheritance, one black, and the remainder Caucasian. Of some interest, there were five Caucasian patients with names identifiable as Eastern European in origin. The mean age of presentation of the definite Moyamoya disease was 14 years, the probable Moyamoya disease was 4 years, and the akin Moyamoya disease was 5 years.

Clinical features of probable Moyamoya disease in Japan

To clarify the current clinical features of probable Moyamoya disease in Japan, 180 cases were analyzed based on the cases collected by the Research Committee on Spontaneous Occlusion of the Circle of Willis of the Ministry of Health and Welfare, Japan. Although the age distribution patterns of probable Moyamoya disease showed two peaks similar to that of definite cases, the pattern shifted to the right thus indicating a reversed children versus adult ratio. The female/male ratio was 1.65, which was not significantly different from that observed in definite cases. The family occurrence rate was 6.7%. The incidence of cerebral infarction and bleeding in probable cases was higher than that in definite cases. The incidence of hemorrhage was higher in females than in males. Angiographically probable cases were at earlier stages in comparison to definite cases. The rebuild-up phenomenon in electroencephalograms was less detectable than in definite cases. Surgical procedures were performed in 63.3% of all cases and approximately 81% of them underwent bypass surgery. Single encephalo-duro-arterio-synangiosis, direct bypass and combined bypass procedures were performed in 35, 40 and 25% of all surgical cases, respectively. Although the incidence of bleeding was higher in the probable cases, the outcomes of the patients were similar to that of the definite cases except for mortality. Approximately 7% of the probable cases developed into definite type within an average 6.6 year follow-up period. The majority of probable Moyamoya disease cases thus seems to have somewhat different clinical characteristics from the definite disease cases.