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Leukoencephalopathy with vanishing white matter

Other Names for this Disease
  • CACH syndrome
  • CACH/VWM syndrome
  • Childhood ataxia with diffuse central nervous system hypomyelination
  • Cree leukoencehalopathy
  • Myelinosis centralis diffusa
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What is leukoencephalopathy with vanishing white matter?

How might leukoencephalopathy with vanishing white matter be treated?

What is leukoencephalopathy with vanishing white matter?

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (brain and spinal cord). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects the nerves. Most affected individuals begin to show signs and symptoms in early childhood, which include abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). Symptoms of this condition can be exacerbated by episodes of fever and/or head trauma. More severe forms, which are less common, may be apparent at birth.[1]

This condition is inherited in an autosomal recessive fashion and is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes.[1]
Last updated: 4/1/2011

How might leukoencephalopathy with vanishing white matter be treated?

There is no cure for this condition. Treatment is usually supportive, seeking to alleviate symptoms associated with this condition. The following treatments may be necessary:[2]

  • Physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia)
  • Ankle-foot orthotics in individuals with hypotonia and weakness of the ankles
  • Anti-seizure drugs for treatment of seizures and abnormalities of behavior and mood

Because fever may exacerbate symptoms of this condition, it is important to prevent infections and fever as much as possible which can be achieved by administering vaccinations (including anti-flu vaccinations), low-dose maintenance antibiotics during the winter time, antibiotics for minor infections, and non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and aspirin for fever.[2]

Affected individuals should be closely monitored for several days following head trauma or a major surgical procedure with anesthesia because neurologic deterioration (presumably stress related) may follow.[2]
Last updated: 4/1/2011

  1. Leukoencephalopathy with vanishing white matter. Genetics Home Reference. October 2007; Accessed 4/1/2011.
  2. Schiffmann R, Fogli A, Van der Knaap MS, Boespflug-Tanguy O.. Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter. GeneReviews. February 2010; Accessed 4/1/2011.