A 59-year-old, previously healthy Caucasian female patient presented to the ED with a sudden onset of focal neurological deficit, with stable vital signs. Her initial physical examination revealed left-sided facial nerve palsy and right lower extremity weakness. The CT head was negative for intracranial bleeding. Subsequently, during her hospital stay, the MRI brain with contrast demonstrated extensive white matter cystic lesions with vasogenic edema. However, after carefully ruling out stroke, metastatic disease, and infectious diseases like neurocysticercosis with radiological and serological tests, the diagnosis of demyelinating condition was presumed, and it was proven by consequent MRI of the brain and elevated IgG levels in the CSF. The patient's initial clinical presentation was pointing towards the diagnosis of ischemic stroke, while her initial MRI brain suggested the diagnosis of the space-occupying lesions, however, rapid recovery of the focal neurological deficit with steroids, and subsequent MRI brain and spine, and CSF tests confirmed the diagnosis of a demyelinating condition. The objective of this case report is to inform physicians that the clinical and radiological presentation of multiple sclerosis can be challenging; therefore, physicians should keep a high index of suspicion.
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http://dx.doi.org/10.1016/j.msard.2020.102457 | DOI Listing |
Nat Neurosci
January 2025
Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, China.
The pathogenesis of Lewy body diseases (LBDs), including Parkinson's disease (PD), involves α-synuclein (α-Syn) aggregation that originates in peripheral organs and spreads to the brain. PD incidence is increased in individuals with chronic renal failure, but the underlying mechanisms remain unknown. Here we observed α-Syn deposits in the kidneys of patients with LBDs and in the kidney and central nervous system of individuals with end-stage renal disease without documented LBDs.
View Article and Find Full Text PDFInferior frontal sulcal hyperintensities (IFSH) observed on fluid-attenuated inversion recovery (FLAIR) MRI have been proposed as indicators of elevated cerebrospinal fluid waste accumulation in cerebral small vessel disease (CSVD). However, to validate IFSH as a reliable imaging biomarker, further replication studies are required. The objective of this study was to investigate associations between IFSH and CSVD, and their potential repercussions, i.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology, University of Chicago, 5841 South Maryland Avenue, Chicago, IL, 60637, USA.
Positional downbeat nystagmus (pDBN) is a common finding in dizzy patients, with etiologies ranging from benign paroxysmal positional vertigo (BPPV) to central vestibular lesions. Although peripheral pDBN often presents with distinct clinical features that differentiate it from BPPV, diagnosing its etiology can be challenging. A thorough clinical evaluation, including the physical characteristics of the nystagmus, response to positional maneuvers, and neurological findings, is often sufficient to diagnose conditions that provoke pDBN such as anterior canal BPPV, atypical posterior canal BPPV, and central causes.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neurology, Inner Mongolia Autonomous Region People's Hospital, Hohhot, China.
Acute internal carotid artery occlusion (AICAO) can result in malignant cerebral edema and unfavorable patient outcomes. This study evaluated the utility of transcranial Doppler (TCD) in assessing contralateral flow compensation and predicting outcomes in patients with AICAO. We enrolled 51 patients within 6 h of symptom onset and conducted TCD examinations to evaluate collateral circulation.
View Article and Find Full Text PDFJ Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
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