What is RNAse T2-deficient leukoencephalopathy?

RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with this disorder have neurological problems that become apparent during infancy. These problems typically do not progress.

What Are the Symptoms?

Symptoms may include:

  • Severe intellectual disability
  • Spasticity
  • Delay in sitting, crawling, and walking
  • Hearing loss
  • Seizures
  • Athetosis (involuntary writhing movements of the hands)
  • Dystonia (uncontrolled muscle tensing)
  • Nystagmus (involuntary eye movements)
  • Microcephaly

How Do You Get RNAse T2-deficient leukoencephalopathy?

This disorder is caused by mutations in the RNASET2 gene. With this disorder, myelin is not made in sufficient amounts during development which causes lesions on the brain. Individuals may also have cysts in the temporal lobes of the brain and enlargement of the ventricles near the center of the brain. The lesions are usually concentrated around these cysts and ventricles.

How Is It Diagnosed?

This disorder can be diagnosed through genetic testing.

Is There a Treatment?

There is no treatment that can cure this disorder and treatment is symptomatic.

Helpful Resources

Genetics Home Reference

Leukodystrophy Care Network