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To prevent sudden death in m.3243A>G carriers, comprehensive neurologic, cardiac, and pulmological examinations are required.
Cardiol Young
November 2024
Neurology and Neurophysiology Center, Vienna, Austria.
The interesting study has limitations that put the results and their interpretation into perspective. m.3243A>G carriers should undergo prospective testing for multisystem disease to avoid missing subclinical multisystem involvement.
View Article and Find Full Text PDFFabry 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.
Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Front Genet
August 2024
Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation.
View Article and Find Full Text PDFCase report: MELAS and T3271C mitochondrial mutation in an adult woman.
Front Neurol
July 2023
Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Introduction: Patients with mitochondrial disorders always show neurological deficits. However, the diversity of clinical manifestations, genetic heterogeneity and threshold effect caused by maternal heredity make its diagnosis very challenging.
Case Presentation: A 30-year-old female presented to our neurology department with a recurrence of symmetrical weakness proximally in the lower extremities.
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