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http://dx.doi.org/10.5693/djo.03.2008.003 | DOI Listing |
Neurol Genet
December 2024
From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.
View Article and Find Full Text PDFCureus
December 2024
Department of Radiology, Hospital Kuala Lumpur, Kuala Lumpur, MYS.
This retrospective case series evaluates the use of intralesional bleomycin injections in treating orbital venolymphatic malformations (OVLM). Three patients, a 7-year-old girl, a 37-year-old woman, and a 56-year-old man, presented with OVLM where the first two were recurrent cases with a history of failed sclerotherapy. All patients received multiple doses of intralesional bleomycin injections, resulting in significant reductions in lesion size, decreased proptosis, and pain relief.
View Article and Find Full Text PDFEpilepsia Open
January 2025
Neurology Department, Wellstar MCG Health at the Medical College of Georgia, Augusta, Georgia.
New Onset Refractory Status Epilepticus (NORSE) is a rare and severe condition characterized by refractory seizures in individuals without a prior history of epilepsy. This case report describes a 37-year-old woman diagnosed with anti-glutamic acid decarboxylase 65 (anti-GAD65) antibody-positive encephalitis-related NORSE. Her seizures were refractory to multiple interventions, including anti-seizure medications, anesthetics, immunotherapies, a ketogenic diet, and electroconvulsive therapy.
View Article and Find Full Text PDFTurk Kardiyol Dern Ars
January 2025
Department of Cardiology, Isfahan University of Medical Sciences, Isfahan, Iran.
Hypereosinophilic syndrome (HES) is traditionally described as chronic peripheral eosinophilia with involvement of various organs and systems, including the heart and nervous system. In this report, we describe cardiac involvement and border zone stroke in a patient with idiopathic HES. A 37-year-old woman presented with sudden right-sided weakness and slurred speech, which began four days before admission, accompanied by palpitations, retrosternal exertional chest discomfort, dry cough, and progressive shortness of breath over approximately two months.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Division of Diabetology and Metabolism, Department of Internal Medicine, Tokyo Women's Medical University School of Medicine, Shinjuku-ku, Tokyo 162-8666, Japan.
A 37-year-old man presented with symptoms of polyuria and weight loss over the past year. Initial laboratory examination showed elevated blood glucose level (468 mg/dL [25.9 mmol/L]; normal reference range [RR], 75-109 mg/dL [4.
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