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Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.
Neurol Sci
January 2025
Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Background And Objectives: Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1-5 genes, typically rare in adulthood. We present a case of adult-onset VWMD with a novel EIF2B2 mutation.
Methods: We collected the patient's clinical data, cerebrospinal fluid (CSF) results, laboratory tests, imaging features, genetic analysis, and follow-up data over a 4-year period.
A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants.
BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
View Article and Find Full Text PDFVanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.
Cureus
November 2024
Department of Pediatrics, Salmaniya Medical Complex, Manama, BHR.
Vanishing white matter (VWM) disease is an autosomal recessive disorder caused by mutations in the gene EIF2B encoding the subunits 1-5 of eukaryotic initiation factor 2B. Although rare, with a reported prevalence of 1:80,000 (0.001%), it was considered as one of the most common leukodystrophies.
View Article and Find Full Text PDFMRI diagnosis of a juvenile leukoencephalopathy with vanishing white matter: A rare case report from Morocco and literature review.
Radiol Case Rep
January 2025
Department of Radiology, Mohammed VI University Hospital, Oujda, Morocco.
Leukoencephalopathy with vanishing white matter is a new autosomal recessive inherited disorder disease entity. It is a chronic disease with a progressive course and episodes of exacerbation, the prevalence of which is still unknown. This disease usually occurs in children and is rare, particularly in the non-Caucasian population.
View Article and Find Full Text PDF[Early onset leukoencephalopathy with vanishing white matter].
Rev Neurol
November 2024
Hospital Clínico Universitario de Valencia, 46010 Valencia, España.
Introduction: Leukodystrophies are a group of developmental disorders of the white matter in the central nervous system. Their differential diagnosis is very broad, and as such information from neuroimaging can be very useful. We present the case of an infant diagnosed with leukoencephalopathy with vanishing white matter following neurological regression.
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