Pediatric opsoclonus-myoclonus and ataxia syndrome (OMAS) is a neurologic disorder characterized by disturbances in eye movement, muscle jerks, ataxia, sleep, and mood. In approximately 50% of cases, it is a paraneoplastic syndrome associated with a neuroblastoma. In the remaining cases, it is believed that the tumor is occult, has involuted, or there is a preceding immune-stimulating event. While neuroblastomas can be associated with other paraneoplastic syndromes, supraventricular tachycardia (SVT) is rarely reported in the literature, and to our knowledge, this is the first case of SVT secondary to idiopathic OMAS. Confounding treatment toxicity, including intravenous immunoglobulin and other immunomodulatory drugs, should be screened for possible cardiovascular side effects in OMAS patients. The development of cardiac arrhythmias during OMAS treatment is not a contraindication to therapy. In these patients, arrhythmias should be controlled with vagal maneuvers or antiarrhythmics as needed while OMAS treatment is completed.
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http://dx.doi.org/10.1080/08998280.2022.2123666 | DOI Listing |
BMJ Case Rep
January 2025
Institute of Neurological Sciences, Prince of Wales Hospital and the University of New South Wales, Randwick, Sydney, New South Wales, Australia
Acute cerebellar ataxia is a clinical syndrome that involves loss of balance and coordination, typically within less than 72 hours. It usually presents in children and rarely affect adults. A woman in her early 20s presented with acute onset dizziness, vertigo, truncal ataxia and dysarthria 2 weeks following an acute viral illness.
View Article and Find Full Text PDFBackground: Christianson syndrome (CS) is an x-linked recessive neurodevelopmental and neurodegenerative condition characterized by severe intellectual disability, cerebellar degeneration, ataxia, and epilepsy. Mutations to the gene encoding NHE6 are responsible for CS, and we recently demonstrated that a mutation to the rat gene causes a similar phenotype in the spontaneous rat model, which exhibits cerebellar degeneration with motor dysfunction. In previous work, we used the PhP.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
J Clin Med
January 2025
Department of Clinical Therapeutics, Alexandra General Hospital, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Paraneoplastic cerebellar degeneration (PCD) is an inflammatory autoimmune process caused by onconeural antibodies directed against cerebellar Purkinje cells. In most cases, prognosis is poor as disease progression leads to pancerebellar dysfunction and permanent neurological damage. Through this case report, we aim to highlight the clinical presentation, diagnostic process, and therapeutic implications associated with PCD secondary to SCLC.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
Background/objectives: Artificial intelligence and large language models like ChatGPT and Google's Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini's potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders.
Methods: By analyzing the model's performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a valuable adjunct in neurogenetic assessments.
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