Adult-onset vanishing white matter disease

Case contributed by Eid Kakish
Diagnosis almost certain


Gait imbalance, cognitive decline with mood disturbances and progressive short-term memory loss.

Patient Data

Age: 55 years
Gender: Male

Abnormally increased white matter signal on T2WI and FLAIR, involving the periventricular white matter of both cerebral hemispheres, extending towards the subcortical U-fibers. These findings are associated with significant white matter volume loss and cystic degeneration, as well as symmetrical curvilinear periventricular areas of restricted diffusion.

The white matter of both temporal lobes is only slightly affected. Presevred brainstem and cerebellar signal. No cerebellar atrophy. The lateral ventricles appear enlarged. 

Case Discussion

Vanishing white matter disease is a progressive genetic leukoencephalopathy as a result of autosomal recessive mutations in the EIF2B genes. It is characterized by quick neurological decline which is usually triggered by stressful situations. 

Most cases present in the pediatric population. Yet, adult cases are being increasingly identified. 

Restricted diffusion may be regarded as an early disease finding. 

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