In part one of this two-part series, Dr. Justin Abbatemarco, Dr. Marjo S. van der Knaap, and Romy J. van Voorst discuss vanishing white matter disease, focusing on the clinical and MRI findings that would prompt the consideration of genetic testing.

Show citation:

van Voorst RJ, Schoenmakers DH, Bonkowsky JL, et al. Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. Neurology. 2025;105(11):e214320. doi:10.1212/WNL.0000000000214320

Show transcript:

Justin Abbatemarco:

Hello and welcome. This is Justin Abbatemarco here with Romy J. van Voorst and Marjo S. van der Knaap. After discussing their article published in Neurology, Consensus-Based Expert Recommendation for Diagnosis and Clinical Management of Vanishing White Matter. They both work for Amsterdam University Medical Center in the Netherlands. And we're going to have a two-part episode dissecting maybe two elements of this paper. Marjo, maybe we could start here and just talking about what vanishing white matter disease is and what in the clinic and MRI findings would make us go towards a genetic testing.

Dr. Marjo S. van der Knaap:

There are two things about vanishing white matter that matter most to families, and one is the stress sensitivity. So any type of physical stress, like fever, viral infection, anything may cause a rapid decline and you never know when it comes. And that brings me to the second item that's very difficult and painful for families. And that's the unpredictability. You never know when a disease is going to hit and then your child is going to go down. So you really need the support of neurologists who know about this disease and help you go through this situation.

Dr. Justin Abbatemarco:

Right. And this paper serves as a great resource for folks that if they have a patient in clinic like this, medications to avoid, how to manage those stress responses. And so it's a really helpful publication to have there. And then I think another message we talked a lot about on the podcast was the importance of genetic testing when patients aren't fitting a typical bucket and this specific disease has unique characteristics. I think the cystic appearance of the MRI, which you do a great job highlighting, would really lead us down that road. So I think it's all really helpful and it gives us some ways to start in clinic with patients and our caregivers. So thank you. Come back and join us for the second part of The Neurology Minute episode where we're going to talk about the patient management.