Leigh syndrome, specifically the French-Canadian type (LSFC), is a genetic disorder impacts specific parts of the brain including the midbrain and brainstem.
People with LSFC might develop typically, but as they grow, they start losing basic skills like controlling their head, walking, and talking. They could also have intellectual disabilities, unusual facial features, irritability, vomiting, and seizures. The areas of the brain impacted by this condition start to lose their protective covering, making it hard to process information, move muscles, and respond to things. LSFC can lead to serious breathing problems, heart issues, and vision loss during periods of metabolic crisis. Right now, there’s no cure for LSFC. Healthcare providers can only provide supportive treatment to help with the symptoms as they come up. This might include medications for seizures, heart problems, breathing issues, and muscle/movement difficulties. The goal is to make the person as comfortable as possible and manage their symptoms as best as they can.
LSFC is caused by pathogenic (disease-causing) variants in the LRPPRC gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are infantile or juvenile subacute necrotizing encephalopathy and subacute necrotizing encephalomyelopathy.