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Lafora Disease Presenting with Ataxia and DM1: A Case Study.
Acta Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
View Article and Find Full Text PDFSialidosis type 1 in a Turkish family: a case report and review of literatures.
J Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDF[Paraneoplastic opsoclonus-myoclonus syndrome].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Kemerovo State Medical University, Kemerovo, Russia.
Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by a combination of main symptoms: opsoclonus, myoclonus, ataxia, psychoemotional and behavioral disturbances. OMS can develop in children as a result of immunopathological processes against the background of infectious or oncological pathology and lead to persistent neurological deficit. A case of ten-year observation of paraneoplastic OMS associated with neuroblastoma in a child is presented.
View Article and Find Full Text PDFOpsoclonus-Myoclonus-Ataxia Syndrome: A Rare Outcome Following Routine Vaccinations.
Cureus
November 2024
Neuropediatrics, Centre for Child Development, Hospital Pediátrico, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, affecting approximately 0.18 per million individuals annually. It presents with a triad of opsoclonus, myoclonus, and ataxia, often including cognitive dysfunction and behavioral disturbances.
View Article and Find Full Text PDFCreutzfeldt-Jakob disease: A case report.
Radiol Case Rep
February 2025
Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Creutzfeldt-Jakob Disease (CJD) is a rare, fatal neurodegenerative disorder that is caused by prion proteins. Patients often present with rapidly progressive dementia, ataxia, myoclonus, memory impairment, visual problems, and changes in personality. In this case report, we aimed to address the course of a 62 year old female who presented with progressive decline in cognitive function and died within 6 months of presentation.
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