Leukoencephalopathy with calcification and cysts (LCC)
Labrune Disease
Inheritance:
Autosomal recessive
Inheritance from both parents will result in the disease
Age range at onset:
From early infancy to late adulthood
Specialists you may see:
Symptoms
The symptoms of LCC can begin at any age, sometimes appearing in the first few months of life but sometimes not developing until late adulthood.
Commonly the first symptoms are epileptic seizures, weakness, abnormal movements or mobility difficulties or cognitive decline.
Some people with LCC first develop symptoms because of the development of cysts within the brain which causes raised pressure inside the head and/or the development of hydrocephalus. This often requires a neurosurgical operation to drain the cyst or relieve the pressure.
In most people, particularly when the condition presents in childhood, there is progressive deterioration in cognitive function and mobility. Life expectancy is variable with some affected people dying under the age of 20 years but others not developing symptoms until middle or old age.
Cause
In LCC there is an abnormality affecting the small blood vessels in the brain (microangiopathy) caused by mutations in the gene SNORD118. These mutations alter the function of a structure present in the cells of the body called the ribosome which is involved in the assembly of proteins.
It is not yet understood how this genetic change causes the disease.
The brain abnormalities of LCC are very similar to those of Coats Plus (CP). However LCC does not cause the eye, bone, gut or blood problems that occur in CP.
Before the genetic causes of CP and LCC were discovered it was thought that both of these conditions might be the same condition which was called CRMCC.