A Rapid Onset and Fatal Disease Course in a 17-Year-Old Boy with Vanishing White Matter Disease (VWM) Triggered by RSV Infection

Background/Purpose: VWM is a rare AR disease that most often affects children, with a severe course in early onset patients. For patients with a later onset, disease course is generally milder, however with a wide variation in severity. The mutation resides in one of the five subunits of eukaryotic translation initiation factor EIF2B, which is essential for protein synthesis and regulation under stress. That explains the unmasking of the disease after infection or minor head trauma. EIF2B5 is the most frequent mutated gene. MRI is often pathognomonic.