Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.

It is unclear how rare RNF213 variants, other than the p.R4810K founder variant, affect the clinical phenotype or the function of RNF213 in moyamoya disease (MMD). This study included 151 Japanese patients with MMD.

Enterprise Treatment for Recurrent Basilar Tip Aneurysm after PulseRider-assisted Coil Embolization: A Case Report.

PulseRider (Cerenovus, Irvine, CA, USA) is a relatively novel device used for the treatment of wide-neck aneurysms with a coil-assisted effect. However, treatment options for recurrent aneurysms after PulseRider-assisted coil embolization remain controversial. Here we report a case of recurrent basilar tip aneurysm (BTA) treated with Enterprise 2 after PulseRider-assisted coil embolization.

Bilateral symptomatic large cavernous carotid artery aneurysms treated by extracranial-intracranial bypass with parent artery occlusion.

Bilateral large cavernous sinus internal carotid aneurysms (CCAs) occur very rarely. While the choice of treatment method is important, the timing of contralateral side treatment is equally important. We herein report the case of a 72-year-old woman who presented with progressive bilateral visual impairment and was treated by two-stage.

Subclavian Artery-Carotid Artery Bypass for Subclavian Artery or Common Carotid Artery Severe Stenosis or Occlusion.

Various surgical treatments are available for occlusive subclavian and common carotid artery diseases. Nevertheless, to date, when cerebral endovascular treatment is utilized, revascularization via direct surgery may be required. This study reported five symptomatic cases of revascularization for CCA and SCA occlusive and stenotic lesions that were expected to be challenging to treat with endovascular treatment.

A Case of Cavernous Malformation of the Midbrain Removed via an Interhemispheric Transcallosal Subchoroidal Approach.

Cavernous malformations of the midbrain have a higher rate of hemorrhage and a poorer prognosis than vascular malformations of other brain areas. Surgical resection of these lesions is often necessary to avoid neurological deficits in affected patients. Herein, the literature surrounding cavernous malformations was examined, and the case of a 48-year-old man with left hemiparesis and diplopia caused by incomplete right oculomotor nerve palsy, who was diagnosed with a hemorrhage from a midbrain cavernous malformation, was discussed.

Kissing Aneurysms of the Posterior Inferior Cerebellar Artery Treated by Anchor Coil Technique and Stenting from the Contralateral Side: A Case Report.

Kissing aneurysms refer to the condition in which two cerebral aneurysms with separate necks are in contact with each other. At present, there is scarce information on kissing aneurysms occurring near the vertebral artery (VA)-posterior inferior cerebellar artery (PICA). We report the first case of VA-PICA and nonbranched PICA kissing aneurysms, which were successfully treated with contralateral stenting after the anchor coil technique using two microcatheters.

Clinical Significance of Cytotoxic Lesions of the Corpus Callosum in Subarachnoid Hemorrhage Patients: A Retrospective Analysis.

Introduction: Cytotoxic lesions of the corpus callosum are secondary lesions induced by significant increases in cytokine levels in the brain and are associated with subarachnoid hemorrhage (SAH). However, their clinical significance in SAH patients remains unclear.

Methods: We retrospectively analyzed SAH patients who were treated in our hospital and evaluated between-group differences in the backgrounds, clinical findings, and outcomes between SAH patients who developed cytotoxic lesions of the corpus callosum and those who did not.

Prognostic Significance of Hyponatremia in Acute Stroke: A Systematic Review and Meta-Analysis.

Objective: Hyponatremia is a common electrolyte disorder in patients with stroke, which leads to various fatal complications. We performed a systematic review and meta-analysis to investigate the outcomes of acute stroke patients with hyponatremia.

Methods: We searched MEDLINE, EMBASE, and the Cochrane Library databases for relevant literature in English published up to March 2020.

[A Case of Intraosseous Meningioma Suspected of Osteosarcoma Based on Preoperative Image Examinations].

Intraosseous meningioma(IM)is one of the less frequent tumors of the skull, which often cannot be distinguished from other common skull tumors based on preoperative radiological findings. Herein, we describe a case of IM suspected to be an osteosarcoma based on preoperative image examinations. A 72-year-old woman experienced an impact to her left parietal area, and a subcutaneous tumor appeared in the same area.

Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.

Capillary malformation-arteriovenous malformation (CM-AVM, MIM#608354) is a rare autosomal dominant disorder characterized by multiple cutaneous capillary malformations co-occurring with fast-flow vascular anomalies, such as arteriovenous malformation or fistula. Despite the identification of RASA1 as the first causative gene in Western patients with CM-AVM, there have been no literature reports of Japanese patients with this gene mutation. We herein report two Japanese pedigrees harboring multiple affected members with CM-AVM.

Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease.

Background: Homozygosity of this p.R4810K founder variant of RNF213moyamoya disease (MMD) susceptibility gene is known to influence the severity of the clinical disease phenotype at disease onset. However, the association between this genotype and long-term clinical manifestations has remained unclear.

Langerhans Cell Histiocytosis of the Skull in a Burr Hole Site Covered with Hydroxyapatite Material.

Background: Langerhans cell histiocytosis (LCH) is a rare dendritic histiocytic disorder that affects the bones, especially the skull. Langerhans cell histiocytosis (LCH) developing in a burr hole site for chronic subdural hematoma is extremely rare.

Case Description: A 53-year-old man underwent a burr hole irrigation for chronic subdural hematoma, and the burr hole was covered with a burr hole button made of hydroxyapatite.

Ruptured Vertebral Artery Dissecting Aneurysm as a Risk Factor for Ocular Symptoms Accompanied with Subarachnoid Hemorrhage.

Objective: Although ruptured vertebral artery dissecting aneurysms (VADAs) are often associated with ocular symptoms, such as abducent nerve palsy and Terson syndrome (TS), their frequency and risk factors in comparison with those associated with ruptured aneurysms in other locations have not been reported.

Methods: Three hundred forty-three patients with nontraumatic subarachnoid hemorrhage were treated in our hospital from April 2002 to May 2016, among which 35 (10.2%) had VADA as the origin of hemorrhage.

[Supratentorial Meningeal Melanoma with Nevus of Ota:A Case Report].

We present a rare case of supratentorial meningeal melanoma associated with ipsilateral nevus of Ota, and a review of the literature. The patient was a 32-year-old man with a right-sided nevus of Ota, presenting with unconsciousness. His CT and MRI scans revealed an extra axial tumor with dural tail signs; no lesion was detected on systemic examination.

The Availability of a Tin-Alloyed Omnidirectional Retractor-Supporting Ring for Ventriculoperitoneal Shunt Laparotomy.

Objective: We report the availability of a newly developed, malleable, tin-alloyed omnidirectional retractor-supporting (OD) ring for steady and safe ventriculoperitoneal (VP) shunt laparotomy.

Methods: The OD ring is principally circular in shape, 15 cm in diameter, and is sufficiently malleable to be fitted to the abdominal wall. There are 22 outward protrusions 12 mm in length that are welded to the outside of the ring at regular intervals.

Effectiveness of the Combined Use of Distal Filter Protection Device and Mo.Ma Ultra: Technical Note.

Background: Although Mo.Ma Ultra is an embolic protection device for interrupting the anterograde blood flow to the internal carotid artery, incomplete blood stagnation is often observed. We report the effectiveness of the combined use of a distal filter protection device and Mo.

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

Background: A founder variant of RNF213, p.R4810K (c.14429G>A, rs112735431), was recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan.

Subarachnoid hemorrhage caused by pilocytic astrocytoma--case report.

A 20-year-old woman presented with subarachnoid hemorrhage (SAH) in the frontal interhemispheric fissure, and a cystic lesion in the left frontal lobe. Cerebral angiography demonstrated no aneurysm or vascular abnormalities. T(1)-weighted magnetic resonance imaging with contrast medium revealed an enhanced lesion along the falx.

Inflammatory myofibroblastic tumor of the cerebellar hemisphere--case report.

A 60-year-old man presented with a rare cerebellar inflammatory myofibroblastic tumor (IMT) manifesting as gait disturbance and dysarthria. Brain magnetic resonance imaging demonstrated an intra-axial round-shaped isointense mass homogeneously enhanced with gadolinium in the right cerebellar hemisphere, as well as perifocal edema extending to the brain stem and right thalamus. The tumor was elastic hard and was resected en bloc with a clear margin.