Vanishing White Matter Disease

A 2 June 2005 article "Genetic discovery offers new hope after family tragedy" in the Daily Telegraph (London) describes a family with 5 children, three of whom developed Leukoencephalopathy with Vanishing White Matter:

But this story of despair has finally ended in hope, following the discovery a molecular cause for VWM.

According to today's issue of the journal Nature, the new understanding of how this basic mechanism breaks down has much wider implications, and offers an insight into common diseases such as cancer and Alzheimer's.

The clinical presentation in this family is described:

The mysterious disease struck their second child, SS, in 1993.  At three months, she began to suffer seizures.  Five months later, despite endless tests, she lapsed into a coma and died.  Mrs S gave birth to J in 1995.  Three months later she developed the same symptoms.  Knowing that nothing could be done, the family refused intensive care.  "We wanted to keep our baby at home and comfortable and love her for as long as we could," Mrs S said.

The family participated in genetic studies, and Prof. Marjo van der Knaap of the Free University Medical Centre, Amsterdam linked the disease to mutations in any of the five genes responsible for a protein called eIF2B.  Studies are underway to develop drugs to treat the disease:

The Ss have set up a charity to back this research, the Three Little Angels Pediatric Neurological Foundation.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even without using the presumed CT/MRI scan result of white matter abnormalities, which makes the diagnosis very likely, the diagnosis of Leukoencephalopathy with Vanishing White Matter is among the top in probability, and higher if you turn off incidence (in Advanced Mode click the Incidence checkbox). 

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.