First autopsy analysis of a neovascularized arterial network induced by indirect bypass surgery for moyamoya disease: case report.

The object of this study was to analyze the pathology of collateral vessels newly induced by indirect bypass surgery for moyamoya disease (MMD). An autopsy analysis was conducted on a 39-year-old woman with MMD who had died of a brainstem infarction. The patient had undergone bilateral indirect bypass surgeries 22 years earlier. Sufficient revascularization via bilateral external carotid arterial systems was confirmed by cerebral angiography before her death. Macroscopic observation of the operative areas revealed countless meandering vessels on the internal surface of the dura mater connected with small vessels on the brain surface and in the subpial brain tissue. Notably, microscopic analysis of these vessels revealed the characteristic 3-layer structure of an arterial wall. This autopsy analysis was the first to confirm that indirect bypass surgery had induced the formation of a new arterial network (arteriogenesis) and that this network had been maintained for more than 20 years to compensate for the chronic cerebral ischemia caused by the MMD.

Clinical features of familial juvenile cases of moyamoya disease: analysis of patients treated in a single institute over a 28-year period.

OBJECT: The authors compared the clinical features between familial and sporadic cases of moyamoya disease (MMD) by retrospectively analyzing data on patients with MMD registered in the database of Tokyo Medical and Dental University over a period of 28 years. METHODS: In total, 383 patients with hospital records at Tokyo Medical and Dental University from 1980 to 2007 were registered into the database. The data on all of these patients were retrospectively reviewed to clarify the occurrence of familial cases. Clinical features of child or adolescent patients (< 20 years of age) with MMD were compared between familial and sporadic cases in a subgroup of patients who were registered after 1995, initially diagnosed using MR angiography, and assessed using an intelligence scale. RESULTS: Familial occurrence was observed in 59 patients (15.4%) in 40 pedigrees. The clinical features of juvenile patients were analyzed in 124 patients, 22 (17.7%) of whom had familial histories. In comparison with the sporadic cases, patients with familial histories were significantly younger at onset (4.7 vs 6.6 years old), had significantly more cortical infarction (59.1% vs 25.5%), and had significantly more stenoocclusive lesions in the posterior cerebral artery (45.4% vs 24.5%). The rate of patients with intellectual disturbance (intelligence quotient < 75) was significantly larger in the familial cases (47.4%) than in the sporadic cases (17.8%). CONCLUSIONS: This survey of the clinical features of familial MMD suggests that patients with familial MMD had a more serious clinical course in childhood than the sporadic MMD cases.

Long-term follow-up of surgically treated juvenile patients with Moyamoya disease.

OBJECT: Surgical revascularization is considered an effective treatment for juvenile patients with moyamoya disease (MMD). Yet the long-term outcome in surgically treated patients still needs to be clarified. More than 30 years have passed since the authors' department started intensively treating pediatric patients with MMD using indirect anastomosis techniques. In this study the authors surveyed the current status of these patients. METHODS: Activities of daily living (ADLs) were surveyed and present clinical status was assessed based on the modified Rankin scale (mRS). Cerebrovascular events subsequent to surgical treatment were also recorded. RESULTS: Since 1979, 208 patients younger than 19 years of age with MMD were surgically treated and followed up for > 3 years. Data were available on 172 patients (83%), who had been followed up for a mean of 14.3 years (range 3-32 years). Activity of daily living outcomes were as follows: 138 patients (80.2%) had mRS scores of 0-2, 29 (16.9%) a score of 3, 1 (0.6%) a score of 4, 1 (0.6%) a score of 5, and 3 (1.7%) a score of 6. Cerebrovascular events occurred 8 or more years after surgery in 6 patients (3.4%), that is, 6 hemorrhages and 3 infarctions. The cumulative risk of late-onset stroke at 10, 20, and 30 years after surgical intervention was 0.8%, 6.3%, and 10.0%, respectively. CONCLUSIONS: This long-term survey demonstrated that most surgically treated pediatric patients with MMD maintain good ADL outcomes. However, a significant number of new cerebrovascular events occurred more than 10 years after the initial surgery. Additional follow-up will help to identify which events may occur during the adult years of patients treated as children.

Correlation between focal brain metabolism and higher brain function in patients with Moyamoya disease.

BACKGROUND: Moyamoya disease is one of the causes of higher brain dysfunction in younger patients. Fortunately, it may be possible to protect younger Moyamoya disease patients from brain dysfunction via surgical manoeuvres. AIM: Our group retrospectively analysed the correlation between preoperative positron emission tomography data and the intelligence quotient scores of 60 Japanese Moyamoya disease patients (age range 9-64). METHOD: All patients underwent a quantitative measurement of the cerebral metabolic rate of oxygen by inhalation of C(15)O(2) and (15)O(2) gas with positron emission tomography. The data was analysed using spm99 software to determine the cerebral regions in which regional cerebral metabolic rate of oxygen was significantly correlated with full-scale intelligence quotient, verbal intelligence quotient, or performance intelligence quotient measured using the Wechsler intelligence scale. RESULTS: All scores (full-scale intelligence quotient, verbal intelligence quotient, and performance intelligence quotient) showed significant positive correlations with the cerebral metabolic rate of oxygen in the lower part of the bilateral frontal lobe, the right anterior temporal lobe, and the medial occipital lobe. The verbal intelligence quotient was significantly and positively correlated with the cerebral metabolic rate of oxygen in the left inferior frontal lobe, including Broca's area. Infarcted lesions in the left posterior temporal lobe and the right upper frontal lobe influenced the decline of all of the intelligence quotient scores measured. CONCLUSION: The present analysis indicates that the higher brain function of Moyamoya disease patients tends to be affected by the cerebral metabolism of specific regions. This information may be useful in seeking optimal clinical management to preserve higher brain function in patients with Moyamoya disease.

Quantitative evaluation of cerebral hemodynamics in patients with moyamoya disease by dynamic susceptibility contrast magnetic resonance imaging--comparison with positron emission tomography.

We examined whether the degree of hemodynamic stress in patients with chronic occlusive cerebral vascular disease can be quantitatively evaluated with the use of perfusion-weighted magnetic resonance imaging (PWI). Thirty-six patients with moyamoya disease (mean age, 26.8 years; range, 18 to 59) underwent PWI and positron emission tomography (PET) within a month's interval. The PWI data were calculated by three different analytic methods. The cerebral blood flow (CBF) ratio, cerebral blood volume (CBV) ratio, and mean transit time (MTT) of the anterior circulation were calculated using the cerebellum as a control region and compared with PET data on the same three parameters and oxygen extraction fraction (OEF). Parametric maps of PWI attained a higher resolution than the PET maps and revealed focal perfusion failure on a gyrus-by-gyrus level. The relative CBV and MTT obtained with PWI showed significant linear correlations with the corresponding PET values (CBV, R2 = 0.47 to 0.58; MTT, R2 = 0.32 to 0.68). We also found that we could detect regions with abnormally elevated OEF and CBV based on the delay of PWI-measured MTT relative to the control region by defining a 2.0-sec delay as a threshold. The sensitivity and specificity were 92.3% and 100% in detecting regions with abnormally elevated OEF, and 20.0% and 100% in detecting regions with abnormally elevated CBV, respectively. Among the parameters obtained with PWI, our results suggested that the relative CBV value and delay of MTT might be quantitatively manipulated to assist in clinical decision-making for patients with moyamoya disease.

Familial moyamoya disease in a Greek family.

Moyamoya disease (M-M) is characterized by progressive obstruction of the supraclinoid portion of internal carotid arteries and the proximal middle, anterior and posterior cerebral arteries, associated with the formation of a characteristic net of collateral vessels in the basal ganglia region. Clinical manifestations in childhood include transient ischaemic attacks, seizures and multiple infarcts. Approximately 7% of M-M cases are familial. We report two affected Greek siblings with typical clinical and neuroradiological findings of M-M. Linkage analysis of the whole family was consistent with linkage to the region 3p24-26, as previously reported in other familial Japanese M-M cases.