2023 American Academy of Neurology Abstract Website

Objective:

Refractory epilepsy is a common presentation in Vanishing white matter disease (VWMD) patients. However, there is little literature describing the nature and evolution of seizures.We aim to study the electroencephalograpic findings in patients with a genetically confirmed diagnosis of VWMD, and their correlation with MRI progression and clinical status longitudinally.

Background:

Vanishing White Matter Disease (VWMD) is one of the most prevalent leukodystrophies in pediatric patients with unique clinical, pathological, and molecular features. It mostly affects children, but may develop at all ages, from birth to senescence. Incidence in one study is reported to be 1 in 80,000 live births. The molecular basis of the disease has been shown to be due to mutations in subunits of Eukaryotic Translation Initiation Factor 2B (eIF2B) ie eIF2B 1-5.

Design/Methods:

An IRB approved retrospective chart review was conducted at Children’s Medical Center, Dallas TX. The initial search pulled up 42 patients that had an associated diagnosis of leukodystrophy. Four of these 42 patients were found to have a genetically confirmed diagnosis of VWMD.

Results:

In our cohort, there were 3males and 1female.Age of diagnosis ranged between 2-10 years and mutations in EIF2B5 was the most common.The earliest seizure onset was noted at 2 years of age at the time of diagnosis.Patients that presented with intractable seizures were noted to have significant MRI changes.Average time of seizure onset from time of diagnosis was 1.6 years. Our patient that was diagnosed with VWMD at 10 years of age did not go on to develop seizures and his EEG did not have any epileptiform discharges.His MRI did not show significant white matter changes and clinically patient had mild to moderate deficits. <br bcx0"="">

Conclusions:

We observe that there is a wide range of severity of epilepsy in these patients & not all patients with a diagnosis of VWMD go on to develop seizures.