Leigh Syndrome

Definition:
Leigh Syndrome is a rare, inherited neurodegenerative disorder that typically arises in infancy or early childhood. It affects the central nervous system, leading to progressive loss of mental and movement abilities.

Causes

• Genetic mutations affecting mitochondrial function (energy production in cells)

• Often caused by mutations in mitochondrial DNA or nuclear DNA involved in mitochondrial energy metabolism

Symptoms

• Developmental delay or regression

• Muscle weakness and hypotonia (low muscle tone)

• Movement disorders (e.g., dystonia, ataxia)

• Respiratory problems

• Feeding difficulties

• Seizures

• Failure to thrive

• Lactic acidosis (build-up of lactic acid in the body)

• Vision and hearing loss may occur

Diagnosis

• Clinical evaluation and symptom history

• Brain MRI showing characteristic lesions in basal ganglia and brainstem

• Elevated lactate levels in blood or cerebrospinal fluid

• Genetic testing for mitochondrial or nuclear DNA mutations

• Muscle or liver biopsy in some cases

Treatment

• No cure currently; treatment is mainly supportive and symptomatic

• Management may include:

  • Nutritional support

  • Physical therapy

  • Medications for seizures or muscle symptoms

  • Supplements like coenzyme Q10, thiamine, or other vitamins (variable benefit)

• Genetic counseling for families

Prognosis

• Progressive condition, often fatal in early childhood

• Severity and progression vary depending on mutation and affected organs