Infantile Subacute Necrotizing Encephalopathy, also known as Leigh syndrome, is a rare, progressive neurological disorder primarily affecting infants and children. It is characterized by the degeneration of specific areas of the brain, resulting in various neurological and physiological symptoms.
The term "infantile" refers to the age at which symptoms typically manifest, usually within the first year of life. "Subacute" indicates that the disease progresses slowly over a period of weeks or months, as opposed to rapidly. "Necrotizing" signifies the death or decay of tissue, while "encephalopathy" denotes a brain disorder or disease.
Children with Infantile Subacute Necrotizing Encephalopathy often exhibit a wide range of symptoms, including developmental delays, loss of previously acquired skills, muscle weakness, fatigue, respiratory problems, poor appetite, and seizures. These symptoms result from the damage and deterioration of various parts of the brain responsible for motor control, coordination, and energy production.
The underlying cause of Infantile Subacute Necrotizing Encephalopathy is often rooted in genetic mutations affecting the mitochondria, the structures within cells responsible for producing energy. Mitochondrial dysfunction leads to inadequate energy production, causing the brain cells to die and impairing the normal functioning of the central nervous system.
While there is currently no cure for Infantile Subacute Necrotizing Encephalopathy, treatment primarily focuses on managing the symptoms and improving the quality of life for patients. This may involve therapies such as physical and occupational therapy to address motor difficulties, medications to control seizures, and nutritional interventions to support energy production. The prognosis for individuals with this condition varies depending on the severity of the disease and the specific genetic mutations involved.
