Moyamoya disease with exaggerated startle response: A rare co-occurrence.

Moyamoya disease with exaggerated startle response: A rare co-occurrence. - PDF Download Free
879KB Sizes 1 Downloads 0 Views

Recommend Documents

Moyamoya disease with neuro-ophthalmic manifestations: a rare case report.
Moyamoya (meaning a hazy puff of smoke) disease (MMD) is a rare, idiopathic, persistent, occlusive cerebrovascular disease involving bilateral progressive stenosis or occlusion of a terminal portion of the internal carotid artery, or a proximal porti

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different s

Moyamoya Syndrome: A Window of Moyamoya Disease.
Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down

RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly ass

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.
Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries with compensatory development of collateral vessels. Although a founder variant of RNF213, p.Arg4810Lys (c.14429G>A, rs112735431), is

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease resulting from occlusion of the distal internal carotid arteries. A variant in the Ring Finger 213 gene (RNF213), altering arginine at position 4810 (p.R4810K), is as

Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series.
Moya Moya Disease (MMD) is characterised by idiopathic vasculopathy affecting the terminal internal carotid arteries resulting in the formation of extensive collaterals at the base of the brain, leptomeninges and parenchymal regions with resultant in

Cerebral arteriovenous malformation associated with moyamoya disease.
The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expec

Moyamoya syndrome associated with Graves' disease: a case series study.
The aim of this study was to describe the clinical and radiological findings of patients with moyamoya syndrome and Graves' disease. Possible mechanisms predisposing these individuals to ischemic stroke are discussed.