Abstract
Vanishing white matter disease (VWM) is the most prevalent inherited leucoencephalopathies in children with central hypomyelination. The classical phenotype is characterized by early onset of chronic neurological deterioration, dominated by cerebellar ataxia. The phenotypic variation is extremely wide from antenatal in onset type with early demise to adult in onset with slowly progressive disease. The basic defect is in one of the ve sub-units of eIF2Binitiation factor. Here we report a case of 80 days old male infant with decreased weight gain, stiffness of all four limbs, seizures following head trauma in whom MRI brain identied T2 hyperintensities in white matter of fronto-temporo-parieto-occipital regions and on DWI, it showed abnormal white matter with increased diffusivity reecting the rarefaction and cystic degenerations. Hence diagnosis of VWM disease was established.
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