Aplastic or twig-like middle cerebral artery and cardiogenic cerebral embolism mimicking moyamoya disease with RNF213 polymorphism: A case report

Progressive stenosis and occlusion of the bilateral internal carotid artery terminals and circle of Willis are typical features of Moyamoya disease. However, aplastic or twig-like middle cerebral artery (Ap/T-MCA)—wherein the unilateral main trunk of the middle cerebral artery (MCA) is not depicted, and a plexiform arterial network is formed—is similar to the findings of Moyamoya disease. Here, we describe a 78-year-old man who presented with mild right paralysis and aphasia. Magnetic resonance angiography (MRA) at admission did not show the bilateral MCAs. The findings were similar to those of Moyamoya disease, and his symptoms worsened after hospitalization. Endovascular treatment was performed, and the left MCA was completely recanalized. Later, paroxysmal atrial fibrillation was detected, and we finally determined that left MCA occlusion had occurred due to embolism. The right MCA was completely occluded at its origin, indicating an Ap/T-MCA. Embolic occlusion of the unilateral MCA and contralateral Ap/T-MCA made this case resemble Moyamoya disease in the acute stage. Even when chronic occlusion is suspected on MRA in acute cerebral infarction, endovascular treatment should be considered. Additionally, a heterotypic R4810K polymorphism was later found in the RNF213 gene. To our knowledge, this is the second report of Ap/T-MCA with the RNF213 gene polymorphism; however, their association remains unclear and requires further analyses.

Cerebral large artery stenosis and occlusion in POEMS syndrome

Background This study aimed to investigate the frequency and risk factors for cerebral artery stenosis and occlusion in patients with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome. Methods We reviewed results of magnetic resonance angiography (MRA) or computed tomography angiography (CTA) in 61 patients with POEMS syndrome seen between 2010 and 2017. Stenosis or occlusion was assessed in the initial MRA/CTA. Multivariate analysis was used to identify risk factors for artery stenosis/occlusion. In an autopsy case, pathologic examination was conducted of the occluded middle cerebral arteries. Results Stenosis (> 50 %) or occlusion of the major cerebral arteries was found in 29 (47.5 %) patients on the initial MRA/CTA. The internal carotid artery was involved most frequently (32.8 %), followed by the anterior (21.3 %) and middle (16.4 %) cerebral arteries. The basilar (1.3 %) and vertebral (3.6 %) arteries were rarely affected. Cerebral infarction developed in eight (13.1 %) patients. The serum vascular endothelial growth factor (VEGF) level was an independent predictor for stenosis/occlusion (odds ratio, 1.228; 95 % confidence interval, 1.042–1.447; P = 0.014). An autopsy study showed occluded middle cerebral arteries by fibrous and myxomatous thickening of intima with splitting of the internal elastic lamina. Follow-up MRA in 23 patients showed improved, worsened, and unchanged stenosis in 20.7 %, 8.7 %, and 69.6 %, respectively. Conclusions Cerebral large-vessel stenosis or occlusion is frequently seen in approximately half of patients with POEMS syndrome. Vasculopathy was related to serum VEGF levels and thereby disease activity. Assessment of cerebral vessels is recommended in these patients to improve management.

Risk factors for ophthalmic artery stenosis and occlusion in patients with retinoblastoma treated with intra-arterial chemotherapy

PurposeTo explore the risk factors for ophthalmic artery (OA) stenosis and occlusion after intra-arterial chemotherapy (IAC) with selective ophthalmic artery catheterisation (OAC) in the treatment of retinoblastoma.DesignRetrospective, single centre case-control study.MethodsThe study was conducted including consecutive patients with unilateral or bilateral intraocular retinoblastoma undergoing IAC between June 2016 and June 2019 with a follow-up time of 4 years. Main outcomes are rate of IAC-induced OA occlusion and OA diameter.Results346 attempted OAC infusions were successful. The total incidence of OA occlusion was 15.89%. The occlusion and control groups were similar in patients’ age, sex and disease stage. Median OA diameter was 0.49 mm in those with OA occlusion, and 0.66 mm in those without occlusion. In the occlusion group, the OA diameter difference was significantly larger between the first IAC and the final IAC (0.22mm vs 0.12mm, p=0.001). In both groups, the median number of IAC treatments was 3. Multivariate Cox regression models included initial OA diameter (OR: 0.005, p=0.001), ratio of OA orifice diameter differences between first and last IAC to the initial OA orifice diameter (OR: 4.661, p=0.003), and number of IAC (OR: 1.538, p=0.042) as clinical features significantly associated with OA occlusion.ConclusionsThe OA diameter at first IAC treatment, the ratio of OA orifice diameter differences between first and last IAC to the initial OA orifice diameter and total number of IAC treatments may be three main clinical predictors for OA occlusion after IAC for retinoblastoma.

FEATURES OF COGNITIVE IMPAIRMENT DEPENDING ON THE STAGE OF CHRONIC CEREBRAL ISCHEMIA

The article presents the results of the analysis of literature sources on chronic cerebral ischemia, etiology and pathogenetic mechanisms of the development of cognitive impairment. In the pathogenesis of chronic cerebral ischemia, systemic and local factors are important, leading to disorders of cerebral hemodynamics, the most adverse effect is exerted by their combination. The most common cause of local disorders of cerebral blood flow is atherosclerotic stenosis and occlusion of intracerebral and extracranial vesselsthat perform transport and distribution functions.Keywords: chronic cerebral ischemia, cognitive disorders, neurological disorders

The role of the angiosomaly-oriented endovascular revascularization method in the complex treatment of diabetic foot syndrome

Objective: analyze the effectiveness of the angiosomal oriented endovascular revascularization method in the complex treatment of diabetic foot syndrome (DFS). Materials and methods. One of the most serious complications of diabetes mellitus is damage to the vessels of the lower extremities. In diabetic macroangiopathy, an extended lesion of medium-sized arteries occurs, which, coupled with an atherosclerotic lesion, often leads to the formation of arterial stenosis and occlusion. The leading method for correcting the patency of the great vessels today is endovascular balloon angioplasty. The study examined the feasibility of selective angiosomal revascularization of the lower extremities. The advantages of angiosomaly-oriented endovascular revascularization are a reduction in the duration of the intervention, a decrease in the volume of the injected contrast drug, and targeted restoration of blood flow in the arteries that feed the affected segment of the limb. The study included 49 patients with a neuroischemic form of DFS with hemodynamically significant stenosis and occlusion of the lower extremities arteries. Patients were divided into 2 groups. Patients of both groups underwent complex conservative treatment and performed operations on the lower extremities (from surgical debridement to below the knee amputation). Patients of the first group underwent angiosomaly oriented revascularization of the lower extremities. Patients from the second group underwent traditional endovascular revascularization. Results. After angiosomaly oriented revascularization, a complete restoration of the initial diameter of the vessel was achieved in 80.0 % of cases, the absence of residual stenosis – in 82.5 %, the absence of intimal dissection – in 95.0 % of cases. It was possible to achieve laminar blood flow in 90.0 % of cases. A reduction in the revascularization procedure by an average of 30 minutes and a decrease in the consumption of contrasting pharmaceuticals by an average of 100.0 ml are shown. Conclusion. When evaluating the results of complex treatment of patients after angiosomaly oriented revascularization, a decrease in the average hospital stay (11 and 13 days, respectively), a decrease in the average healing time of a wound defect by 1.25 times, a decrease in the average duration of ulcerative epithelization (9 and 13 days, respectively) and a decrease in the volume of surgical intervention and the number of high amputations during the year after angioplasty compared with patients who underwent endovascular revascularization according to the traditional method.

Unusual type of scleromyxedema with multiple subcutaneous nodules, IgM-λ paraproteinemia, and scleroderma-like microangiopathy

Scleromyxedema is a mysterious cutaneous mucinosis of unknown etiology. Various types of scleromyxedema variant have been reported, which often give us a clue to understand the key aspects of this disease. Here, we describe a woman with highly unusual type of scleromyxedema. In addition to the rare manifestations of multiple subcutaneous nodules and IgM-λ paraproteinemia, our patient showed several characteristic symptoms of scleroderma such as shortened nails and fingertips, sclerodactyly, and bone resorption of fingertips and mandibles as a result of peripheral circulatory insufficiency, although this disease is known to be pathophysiologically different from scleroderma. A skin biopsy revealed cutaneous microvascular stenosis and occlusion due to intravascular mucin deposition and fibrotic changes, suggesting that scleromyxedema potentially develops peripheral circulatory disorders and other vascular involvement. The subcutaneous nodules were responsive to high-dose intravenous immunoglobulin. Scleromyxedema can represent a wide variety of systemic involvement, and therefore, we should pay attention to those symptoms as well as skin lesions.