Background: Subacute sclerosing panencephalitis (SSPE) is a potentially fatal complication of measles. The authors report a case of recurrent myoclonic jerks under investigation, whose ophthalmic examination pointed to the diagnosis.
Case Presentation: A 12-year-old boy with recurrent episodes of myoclonic jerks was found to have optic disc pallor and an irregular macular scar with pigmentation in the left eye. The retinal finding proved to be a strong diagnostic clue for SSPE. There was a history of exanthematous fever in childhood. Antibodies against measles were detected in both the cerebrospinal fluid and serum. Retinitis with intraretinal and subretinal hemorrhage in the right eye was noted 6-weeks after the initial presentation.
Conclusion: The authors describe the importance of ophthalmic evaluation in cases of recurrent myoclonic jerks. Optical coherence tomographic features and ultrawide field imaging characteristics of a case of SSPE are described.
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http://dx.doi.org/10.1186/s40662-016-0066-2 | DOI Listing |
BMJ Case Rep
January 2025
Neurology, Joondalup Health Campus, Joondalup, Western Australia, Australia.
Anti-dipeptidyl-peptidase-like protein 6 antibody-mediated disease is a rare autoimmune encephalitis typically presenting with diarrhoea and/or weight loss, central nervous system hyperexcitability and cognitive dysfunction. We present a case of a young woman with 10 days of diplopia and unsteadiness in the context of dysthymia and significant weight loss over 2 months. Initial examination demonstrated mixed dysconjugate nystagmus and ataxic gait.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health San Antonio, San Antonio, TX, USA.
Background: APP duplications are a rare form of familial Alzheimer's disease (AD). Research has shown variability in clinical presentation with full duplications. There is limited information on those with partial duplications, especially in underrepresented minorities.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Neurological Institute of Thailand, Ratchathewi, Bangkok, Thailand.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is one of common causes of rapidly progressive dementia worldwide. However, because of the variety of its clinical presentations that mimic other cognitive disorders, the certain diagnosis in public hospitals is still limited. Therefore, this study provides more information about disease manifestations and clinical courses of probable sCJD cases in Thailand.
View Article and Find Full Text PDFActa 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 PDFJ 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.
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