A Rare Cause of Progressive Spastic Motor Impairment in a Child: Vanishing White Matter Disease Due to Novel EIF2B1 Compound Heterozygosity—A Case Report with Physiotherapy Correlation
Riya Trivedi, Nikita Patel, Adyata Dave & Kosha Shah · Asian Journal of Medicine and Health · 2026
Background: Leukoencephalopathy with vanishing white matter (VWM), also known as childhood ataxia with central nervous system hypomyelination, is a rare autosomal recessive leukodystrophy caused by pathogenic variants in EIF2B1–EIF2B5; EIF2B1-related disease is comparatively unco...
Open access
Research Article
10.9734/ajmah/2026/v24i101439