Vanishing White Matter Disease Presenting as Acute Febrile Encephalopathy: Case Report

2021 ◽  
Author(s):  
Jyotindra Narayan Goswami ◽  
Shijith K.P ◽  
Ashish Kumar Simalti ◽  
Saroj Kumar Patnaik
Keyword(s):  
White Matter ◽  
Acute Onset ◽  
White Matter Disease ◽  
Total Recovery ◽  
Mild Developmental Delay ◽  
Clinical Exome Sequencing ◽  
Child Patient ◽  
History Of ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

AbstractA 3.5-year-old male child patient with mild developmental delay presented with history of acute onset fever, encephalopathy, and dyskinesia. The patient was investigated for common etiologies and was managed supportively. His neuroimaging was suggestive of vanishing white matter (VWM) disease which was confirmed by clinical exome sequencing. The child had an eventful hospital stay followed by near-total recovery after 4 weeks. The case attempts to sensitize readers about the current perspectives pertaining to VWM disease.

scholarly journals Vanishing White Matter Disease Expression of Truncated EIF2B5 Activates Induced Stress Response

2020 ◽  
Author(s):  
Matthew D. Keefe ◽  
Haille E. Soderholm ◽  
Hung-Yu Shih ◽  
Tamara J. Stevenson ◽  
Kathryn A. Glaittli ◽  
...  
Keyword(s):  
White Matter ◽  
Motor Behavior ◽  
Somatic Growth ◽  
Initiation Factor ◽  
White Matter Disease ◽  
The Central Nervous System ◽  
Oligodendrocyte Precursor ◽  
Vanishing White Matter Disease ◽  
Development And Validation ◽  
Vanishing White Matter

AbstractVanishing White Matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B). Current models only partially recapitulate key disease features, and pathophysiology is poorly understood. Through development and validation of zebrafish (Danio rerio) models of VWM, we demonstrate that zebrafish eif2b mutants phenocopy VWM, including impaired somatic growth, early lethality, impaired myelination, loss of oligodendrocyte precursor cells, increased apoptosis in the CNS, and impaired motor swimming behavior. Expression of human EIF2B2 in the zebrafish eif2b2 mutant rescues lethality and CNS apoptosis, demonstrating conservation of function between zebrafish and human. In the mutants, intron 12 retention leads to expression of a truncated eif2b5 transcript. Expression of the truncated eif2b5 in wild-type larva impairs motor behavior and activates the ISR, suggesting that a feed-forward mechanism in VWM is a significant component of disease pathophysiology.

scholarly journals Poor Cerebral Inflammatory Response in eIF2B Knock-In Mice: Implications for the Aetiology of Vanishing White Matter Disease

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e46715 ◽  
Author(s):  
Yuval Cabilly ◽  
Mali Barbi ◽  
Michal Geva ◽  
Liraz Marom ◽  
David Chetrit ◽  
...  
Keyword(s):  
White Matter ◽  
Inflammatory Response ◽  
White Matter Disease ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease

2008 ◽  
Vol 110 (10) ◽  
pp. 1068-1071 ◽  
Author(s):  
Nathalie Damon-Perriere ◽  
Patrice Menegon ◽  
Anne Olivier ◽  
Odile Boespflug-Tanguy ◽  
Florence Niel ◽  
...  
Keyword(s):  
White Matter ◽  
Phenotypic Heterogeneity ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Cannabinoids efficacy in vanishing white matter disease: A case report

2021 ◽  
Vol 429 ◽  
pp. 118270
Author(s):  
Giulia Galli ◽  
Eleonora Virgilio ◽  
Paola Naldi ◽  
Riccardo Fornaro ◽  
Domizia Vecchio ◽  
...  
Keyword(s):  
Case Report ◽  
White Matter ◽  
White Matter Disease ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter
Sign in / Sign up

Export Citation Format

Share Document