Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
What is LBSL?
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a disorder in which issues with the white matter of the brain affect the brain and spinal cord.
This is a rare condition, and the prevalence is unknown.
What are the symptoms of LBSL?
Symptoms typically appear during childhood or early adolescence, but some do not see the onset until adulthood. Symptoms include:
- Muscle stiffness
- Inability to sense the position of limbs
- Difficulty walking
- Speech issues
- Problems with learning
- Mild issues with mental functioning
Those with LBSL should be careful, as even minor head trauma can cause severe complications. These can include loss of consciousness, fever, and other reversible neurological problems.
What causes LBSL?
A mutated DARS2 gene causes this condition, and it is inherited in an autosomal recessive pattern. This gene is responsible for the instructions for mitochondrial aspartyl-tRNA synthetase, an enzyme necessary for producing mitochondria. Medical professionals are unsure as to how this leads to the characteristic symptoms.
How is LBSL diagnosed?
Doctors will first perform a physical examination, followed by evaluating patient history and MRIs of the brain. In order to confirm a diagnosis, they will use genetic testing.
What are the treatments for LBSL?
There is no cure for this condition; treatment is symptomatic. Doctors recommend physical and speech therapy as well. LBSL often progresses slowly, so monitoring is important for treatment. Medical professionals recommend an MRI every few years.