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Vanishing white matter (VWM) is a genetic disease of the central nervous system that can be hereditary or caused by specific events such as high fever or head injury. The disease causes the white matter of the brain to disintegrate, leading to loss of motor and neurological function, seizures, and eventually coma and death. There is no cure for VWM, but treatments focus on relieving symptoms and preventing dangerous fevers.
Vanishing white matter (VWM) is a disease of the central nervous system often diagnosed in early childhood. It is caused by a genetic mutation in one of five genes. Changes in these genes can occur sporadically, due to a very high fever, head injury, or infection. VWM can be hereditary and can run in families.
Scientists have identified the genes that must be affected to cause the white matter to disappear. When grouped together, these genes are known as eukaryotic initiation factor 2B (eIF2B). The most commonly affected gene is the eIF2B5 gene. When a change occurs in this gene, it can no longer make proteins properly. Although the mutation is the result of genetic factors, it can be accelerated or influenced by specific events that impact the brain.
The progression of evanescent white matter is usually quite slow, but certain events can exacerbate the condition and increase the rate at which mutations occur. High fevers resulting from infections are the primary cause of such accelerations. Additionally, head trauma can initiate a rapid deterioration of the patient’s function. Even minor head injuries can be significant in a patient with this disorder.
The disappearance of the white matter causes the white matter of the brain to disintegrate, which is a collection of nerve fibers covered in a fatty insulator known as myelin. In individuals with VWM, white matter cells are particularly sensitive to stress and hormonal changes in the body. As the deterioration increases, the symptoms of the disorder become more evident.
If the change in the eIF2B gene is significant, motor and neurological function will be affected. This loss of function is the hallmark of evanescent white matter disease. The child may experience seizures, regular fever, muscle stiffness and extreme tiredness. Additionally, he may lose coordination, develop eye problems, and have difficulty with cognitive function and speech production. Eventually, VWM will lead to coma and death, typically resulting from high fever.
The severity of the disease can vary greatly from person to person. Some children show symptoms in infancy, while others typically develop into late childhood. Problems with movement are typically much more serious than problems with cognition, and there can be long periods of steady development where no decline occurs. Life expectancy ranges from a few years to the mid 40s. While there is no cure for VWM, treatments focus on relieving the condition’s many symptoms and preventing dangerous fevers.
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