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Multisystem clinicopathologic and genetic analysis of MELAS.
Orphanet J Rare Dis
December 2024
Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
Background And Objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle. This study provides a comprehensive summary of the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome. The aim was to improve comprehension of clinical practice and gain a deeper understanding of the latest pathophysiological theories.
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- A 38-year-old woman experienced difficulty walking and focal seizures, showing signs of cerebellar dysfunction and spastic lower limbs, while having a long history of epilepsy treatment since the age of 20.
- An MRI and MR spectroscopy indicated significant brain changes, including elevated lactate levels, suggesting a mitochondrial disorder.
- Due to financial constraints preventing genetic testing, she was diagnosed with MELAS and switched to alternative treatments to manage her condition.
Fabry Disease: A Rare Mutation With Common Clinical Presentation.
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 PDFNeuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report.
Front Neurol
October 2024
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Article Synopsis
- * An elderly male patient with sudden onset dementia was initially misdiagnosed with a vascular issue, but further tests and imaging confirmed NIID, revealing significant cortical edema and prior MRI changes in the cerebellum.
- * The case highlights the importance of considering NIID in patients with specific imaging features and symptoms similar to other conditions like MELAS syndrome or Creutzfeldt-Jakob disease, particularly when chronic headaches and symmetric lesions in the cerebellum are present.
A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.
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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