We report a case of MELAS in which lesions were detected by perfusion-weighted MR imaging. Perfusion-weighted MRI using contrast media (PWI) and FAIR (flow-sensitive alternating inversion recovery), an arterial spin labeling method, clearly showed these lesions as hyperperfused areas. One of these lesions, diminished after steroid therapy, could also be detected by FAIR.
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http://dx.doi.org/10.2463/mrms.1.50 | DOI Listing |
Cureus
October 2024
Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT.
Strokes are infrequent in younger adults, making diagnosis of their underlying causes challenging. Fabry disease, a rare genetic condition with a complex and not fully understood pathophysiology, is one potential cause. This report describes a 41-year-old woman with a history of glaucoma, recurrent uveitis, ischemic stroke affecting the posterior circulation, and sensorineural hearing loss.
View Article and Find Full Text PDFCase Rep Neurol
September 2024
Department of Neurology, Graduate School of Medicine, Mie University, Tsu, Japan.
Front Neurol
October 2024
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mol Genet Genomics
October 2024
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
The MELAS/Leigh overlap syndrome manifests with a blend of clinical and radiographic traits from both MELAS and LS. However, the association of MELAS/Leigh overlap syndrome with MT-CO1 gene variants has not been previously reported. In this study, we report a patient diagnosed with MELAS/Leigh overlap syndrome harboring the m.
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