Infantile Leigh Disease, also known as Leigh syndrome or subacute necrotizing encephalopathy, is a rare and severe genetic disorder that primarily affects the central nervous system. This degenerative disease is generally characterized by the progressive deterioration of motor and cognitive functions, leading to developmental delays, muscle weakness, and respiratory problems.
Infantile Leigh Disease is caused by mutations in the mitochondrial DNA or nuclear DNA, impairing the normal functioning of mitochondria within cells. Because mitochondria are responsible for producing energy required by various organs, including the brain, their dysfunction leads to a deficiency in energy production.
Symptoms of Infantile Leigh Disease often first appear in infancy or early childhood. These symptoms may include poor appetite, vomiting, irritability, seizures, low muscle tone, and delayed or ceased growth. As the condition progresses, affected individuals may experience difficulty swallowing, respiratory difficulties, and a loss of previously acquired developmental milestones.
Diagnosis of Infantile Leigh Disease usually involves a combination of clinical symptoms, neurological examination, brain imaging studies (such as magnetic resonance imaging or MRI), and genetic testing. Unfortunately, there is currently no cure for this disease, and treatment mainly focuses on managing symptoms and supporting affected individuals. This may involve medication to control seizures, physical and occupational therapy to maintain muscle function, and respiratory support if necessary.
The prognosis for individuals with Infantile Leigh Disease is generally poor, and many cases result in early death, commonly during childhood or adolescence. However, the severity and progression of symptoms can vary, and some affected individuals may survive into adulthood with long-term supportive care.
