Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation

MR imaging findings of moyamoya disease.

The brain MR images of 23 patients with angiographically proved moyamoya disease were reviewed to evaluate the capability of MR to demonstrate vascular and parenchymal abnormalities. All the MR images were obtained on a 2.0 T superconducting system and included T1-weighted sagittal and T2-weighted axial images without implementation of flow compensation (FC). The vascular abnormalities demonstr...

Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event.

BACKGROUND AND PURPOSE Fabry disease (FD) may cause stroke and is reportedly associated with typical brain findings on magnetic resonance imaging (MRI). In a large group of young patients with an acute cerebrovascular event, we wanted to test whether brain MRI findings can serve to suggest the presence of FD. METHODS The Stroke in Young Fabry Patients (SIFAP 1) study prospectively collected c...

Kimura disease: CT and MR imaging findings.

BACKGROUND AND PURPOSE KD is a rare chronic inflammatory disorder of unknown etiology. The purpose of this study was to evaluate the CT and MR imaging findings of KD in the head and neck. MATERIALS AND METHODS We retrospectively reviewed the CT (n = 21) and MR (n = 9) images obtained in 28 patients (24 males and 4 females; mean age, 32 years; age range, 10-62 years) with histologically proved...

MR brain imaging of fucosidosis type I.

SUMMARY Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and d...

Arterial spin-labeling MR imaging in moyamoya disease compared with clinical and other MR imaging findings