Subacute necrotizing encephalopathy, also known as Leigh syndrome, is a rare progressive neurodegenerative disorder that primarily affects infants and young children. It is characterized by the degeneration of various regions in the central nervous system, particularly the brainstem and basal ganglia.
The term "subacute" refers to the gradual onset and progression of symptoms over weeks or months. "Necrotizing" refers to the destruction of cells or tissues, particularly in areas of the brain that are responsible for movement and coordination. "Encephalopathy" indicates a disorder or disease that affects the brain.
Symptoms of subacute necrotizing encephalopathy may include developmental delay, muscle weakness, poor coordination, loss of motor skills, seizures, breathing difficulties, and cognitive impairment. The severity of symptoms can vary between individuals, with some only experiencing mild manifestations, while others may have more severe and rapidly progressing symptoms.
The underlying cause of subacute necrotizing encephalopathy is often attributed to genetic mutations that affect the function of mitochondria, the cellular structures responsible for energy production. These mutations disrupt the normal energy metabolism processes in the brain, leading to the accumulation of harmful substances and oxidative damage, ultimately resulting in cell death.
Currently, there is no cure for subacute necrotizing encephalopathy, and treatment primarily focuses on managing symptoms and providing supportive care. This may involve medications to control seizures, physical therapy to improve muscle strength and coordination, and nutritional support. Prognosis can vary depending on the specific genetic mutation and the severity of symptoms, but the condition often leads to progressive neurological decline and can be life-threatening.
