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

A 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.

Leukoencephalopathy with vanishing white matter caused by EIF2B5 gene mutations: a case report

Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we report a case VWM disease in a boy with white matter lesions, in whom early onset and neurological symptoms suggested infantile form of the disease. The diagnosis was confirmed by the detection of biallelic mutations c.1688G>A (p.Arg563Gln) and c.1309G>A (p.Val437Met) in the EIF2B5 gene. The c.1309G>A mutation (p.Val437Met) was detected for the first time; it caused the development of severe disease.

VANISHING WHITE MATTER DISEASE WITH CENTRAL HYPOMYELINATION

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 identied T2 hyperintensities in white matter of fronto-temporo-parieto-occipital regions and on DWI, it showed abnormal white matter with increased diffusivity reecting the rarefaction and cystic degenerations. Hence diagnosis of VWM disease was established.