From the Guidelines
Leigh syndrome is not primarily a neurosurgical case but rather a neurometabolic disorder that requires multidisciplinary management. This rare mitochondrial disease typically presents in infancy or early childhood with progressive neurological deterioration, including developmental delay, seizures, movement disorders, respiratory abnormalities, and characteristic brain lesions on MRI, particularly in the basal ganglia and brainstem. Management focuses on supportive care and treating the underlying mitochondrial dysfunction through a combination of medications such as coenzyme Q10, riboflavin, L-carnitine, and other mitochondrial cofactors 1. Neurosurgical intervention is generally not indicated except in rare cases where complications like hydrocephalus develop. The disease is caused by mutations affecting mitochondrial energy production (ATP synthesis), leading to energy failure in high-energy demanding tissues, particularly the brain. Treatment is primarily medical and supportive, focusing on managing symptoms, preventing metabolic decompensation during illness, and providing nutritional support, rather than surgical intervention. Key considerations in managing patients with Leigh syndrome include:
- Avoiding general anesthesia whenever possible due to the risk of metabolic decompensation and respiratory failure, as highlighted in a case series and review of mitochondrial disorders and general anesthesia 1.
- Providing careful perioperative management for patients undergoing surgical procedures, with attention to maintaining stable metabolic and respiratory function 1.
- Utilizing a multidisciplinary approach to care, incorporating specialists from neurology, genetics, nutrition, and other relevant fields to optimize patient outcomes.
From the Research
Definition and Characteristics of Leigh Syndrome
- Leigh syndrome is a devastating neurodegenerative disorder characterized by focal, bilaterally symmetric lesions in the basal ganglia, thalamus, and brainstem 2.
- It is associated with a wide variety of abnormalities, including psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, and respiratory failure 2.
- The disorder can also present with peripheral nervous system involvement, non-neurologic abnormalities, or a combination of both 2.
Neurosurgical Aspects of Leigh Syndrome
- Leigh syndrome is typically managed by a multidisciplinary team, including neurologists, geneticists, and other specialists 3, 4.
- While neurosurgery may not be the primary treatment approach for Leigh syndrome, surgical interventions may be necessary in certain cases, such as managing complications or performing diagnostic procedures 4.
- However, there is no clear evidence to suggest that Leigh syndrome is primarily a neurosurgery case, as the focus of treatment is often on managing the underlying metabolic and genetic abnormalities 2, 5, 3, 4, 6.
Diagnosis and Treatment of Leigh Syndrome
- Diagnosis of Leigh syndrome typically involves a combination of clinical evaluation, laboratory tests, and imaging studies, such as MRI 5, 4.
- Treatment options for Leigh syndrome are limited, and there is currently no cure for the disorder 3, 4.
- Management strategies often focus on supporting the patient's overall health and alleviating symptoms, rather than attempting to correct the underlying neurodegenerative process 3, 4.