Child ; Humans ; Male ; Moyamoya Disease ; etiology ; Takayasu Arteritis ; complications ; diagnosis

Adult ; Hemoglobinuria, Paroxysmal ; complications ; pathology ; Humans ; Male ; Moyamoya Disease ; diagnosis ; etiology ; pathology ; Young Adult

Brain Ischemia ; Cardiomyopathy, Hypertrophic/diagnostic imaging* ; Hemorrhagic Stroke ; Humans ; Moyamoya Disease/diagnostic imaging* ; Stroke/etiology*

We report on a 13-year-old female with systemic lupus erythematosus (SLE) who exhibited symptoms of severe migraine and familial moyamoya disease. Cerebral magnetic resonance angiography (MRA) showed stenosis and occlusion of the bilateral internal carotid arteries associated with the development of collateral circulation (moyamoya vessels). In a child, as in this case, headaches with cerebral infarction associated with moyamoya disease are unusual. Few cases of SLE associated with familial moyamoya disease have been reported, with no previous reports of such cases from Korea. There were no evidences of antiphospholipid syndrome, and activity of SLE or other risk factors for cerebral occlusion were also absent.
Adolescent ; Carotid Artery, Internal/pathology ; Female ; Human ; Lupus Erythematosus, Systemic/*complications ; Magnetic Resonance Angiography ; Migraine/etiology ; Moyamoya Disease/*diagnosis/*genetics

A 36-year-old man was diagnosed with a right temporal lobe grade II cerebral arteriovenous malformation (cAVM) and was treated with radiosurgery. At nine months after the cAVM radiosurgery, the patient began to develop bilateral focal narrowing at the M1 segments of the bilateral middle cerebral arteries. The narrowing progressively deteriorated as was demonstrated on longitudinal serial follow-up MR imaging. X-ray angiography performed at 51 months after radiosurgery confirmed that the cAVM was cured and a diagnosis of moyamoya disease. To the best of our knowledge, this is the first case of cAVM-associated moyamoya disease that developed after radiosurgery. Given the chronological sequence of disease development and radiation dose distribution of radiosurgery, it is proposed that humoral or unknown predisposing factors, rather than direct radiation effects, are the cause of moyamoya disease associated with cAVM.
Adult ; Humans ; Intracranial Arteriovenous Malformations/diagnosis/*surgery ; Magnetic Resonance Imaging ; Male ; Moyamoya Disease/*etiology ; Postoperative Complications ; Radiosurgery

OBJECTIVEThe aim of this study was to help people comprehensively understand the research advances related to ring finger protein 213 (RNF213) in moyamoya disease (MMD) and to understand the disease at the molecular level to provide a new perspective of the diagnosis of the disease.

DATA SOURCESThis review was based on data in articles published between 2005 and 2015 that were retrieved from the PubMed database. The search terms included RNF213, MMD, intracranial major artery stenosis /occlusion (ICASO), genotype, phenotype, mutant and variants, and the combinations of these terms.

STUDY SELECTIONArticles related to MMD and RNF213 were selected for review, and we also reviewed publications related to ICASO.

RESULTSRNF213 is not only associated with MMD but also associated with intracranial major artery stenosis. In addition, RNF213 variants exhibit apparent ethnic diversity; specifically, the c.14576G>A variant is mainly detected in Korean, Chinese, and Japanese populations, particularly the latter population. The genotypes of RNF213 correlate with the phenotypes of MMD; for example, the homozygous c.14576G>A variant is associated with early-onset, severe symptoms, and an unfavorable prognosis. Furthermore, the RNF213 c.14576G>A variant should be considered during the diagnosis of MMD because no patients with quasi-MMD have been reported to carry the RNF213 c.14576G>A variant whereas 66 of 78 patients with definite MMD have been found to carry this variant.

CONCLUSIONSThe growing literature demonstrates that MMD is primarily caused by the synergy of genetic and environmental factors, and unknown genetic modifiers might play roles in the etiology of MMD. Further research should be conducted to clarify the pathogenic mechanism of MMD.

Adenosine Triphosphatases ; genetics ; Animals ; Asian Continental Ancestry Group ; Genetic Predisposition to Disease ; etiology ; Genotype ; Humans ; Moyamoya Disease ; etiology ; genetics ; Phenotype ; Ubiquitin-Protein Ligases ; genetics

No abstract available.
Adult ; Brain Ischemia/diagnosis/*etiology ; Cerebral Angiography ; Fatal Outcome ; Female ; Humans ; Hyperventilation/complications ; Moyamoya Disease/*complications/diagnosis/therapy ; Risk Factors ; Stroke/diagnosis/*etiology ; Thyroid Crisis/*complications/diagnosis/therapy

Progressive narrowing of distal carotid arteries and the development of compensatory fine networks are the characteristic findings of moyamoya disease. Cerebral infarction in moyamoya disease is due to a decreased blood flow and shows an uneven distribution in the distal bed of the anterior and middle cerebral arteries. The progression of disease in the posterior circulation follows that in the anterior circulation. Posterior circulation symptoms due to cerebral infarction usually occur in the advanced stage of the disease and follow the anterior circulation symptoms. We encountered an unusual case of moyamoya disease which initially presented with a transient visual field defect. One month later our patient developed blindness and her cerebral angiography showed advanced moyamoya disease.
Adult ; Blindness/etiology ; Case Report ; Cerebral Angiography ; Female ; Human ; Magnetic Resonance Imaging ; Moyamoya Disease/*complications/*diagnosis ; Tomography, Emission-Computed, Single-Photon ; Vision Disorders/*etiology ; *Visual Fields

The purpose of this study was to determine the prevalence and characteristics of symptomatic coronary heart disease (CHD) in patients with moyamoya disease (MMD). This retrospective study evaluated 456 patients who received examination for MMD between 1995 and 2012. We reviewed the patients' medical history and coronary imaging, including conventional coronary angiography and coronary computed tomography angiogram (CTA). Among 456 patients with MMD, 21 (4.6%) patients were found to have symptomatic CHD. Ten patients were treated with coronary artery bypass graft or percutaneous coronary intervention for unstable angina or myocardial infarction. Eleven were treated with medication for stable angina (n = 6) and variant angina with mild degree of stenosis (n = 5).The median age of these patients was 44 yr (range, 27-59). The median Framingham score at diagnosing MMD was < 1% (range, < 1%-16%). The old age was associated with CHD in uni- and multivariate analyses (P = 0.021, OR, 1.053; 95% CI, 1.008-1.110). Considering low age of onset and low stroke risk factor, CHD might be a systemic manifestation that is clinically relevant to MMD.
Adult ; Age Factors ; Aged ; Coronary Angiography ; Coronary Artery Disease/*etiology ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Moyamoya Disease/*complications ; Retrospective Studies

OBJECTIVETo explore the roles of granulocyte colony-stimulating factor in the pathogenesis of moyamoya disease.

METHODSSerum G-CSF concentrations were measured using enzyme linked immunosorbent assay (ELISA) in 20 children with moyamoya disease and 20 healthy children.

RESULTSSerum G-CSF concentration (35.7+/-10.3 pg/mL) in children with moyamoya disease was significantly higher than that in healthy controls (23.5+/-3.8 pg/mL) (p<0.01).

CONCLUSIONSThe elevated serum G-CSF concentration in children with moyamoya disease suggests that G-CSF may play an important role in the pathogenesis of moyamoya disease.

Child ; Child, Preschool ; Female ; Granulocyte Colony-Stimulating Factor ; blood ; physiology ; Humans ; Male ; Moyamoya Disease ; blood ; etiology ; Vascular Endothelial Growth Factor A ; analysis ; physiology