From the Guidelines
Leigh Syndrome (LS) is primarily a neurology case, not a neurosurgery case. This rare, inherited neurometabolic disorder affects the central nervous system and is characterized by progressive neurodegeneration due to mitochondrial dysfunction, as seen in a case series and review published in the British Journal of Anaesthesia 1. Patients with Leigh Syndrome typically present with developmental delay, psychomotor regression, seizures, respiratory abnormalities, and lactic acidosis. Management is primarily medical and supportive, focusing on treating symptoms, preventing metabolic decompensation, and providing nutritional support.
Some key aspects of management include:
- Medications such as coenzyme Q10, riboflavin, thiamine, and other mitochondrial cocktail supplements, though evidence for their efficacy is limited 1
- Anticonvulsants may be needed for seizure control
- The disease is managed by neurologists, often specializing in metabolic disorders, working with a multidisciplinary team including geneticists, metabolic specialists, and other healthcare providers to address the complex, multisystem nature of this progressive condition. While neurosurgical intervention is not typically part of primary treatment, it might occasionally be required for specific complications like hydrocephalus. The primary concern in managing Leigh Syndrome is preventing metabolic decompensation and managing symptoms, which is typically the realm of neurology rather than neurosurgery, as highlighted by the case of a child with severe, progressive neuro-metabolic disease who deteriorated significantly after general anesthesia 1.
From the Research
Definition and Classification of Leigh Syndrome
- Leigh Syndrome (LS) is a devastating neurodegenerative disorder characterized by focal, bilaterally symmetric lesions in the basal ganglia, thalamus, and brainstem 2.
- It is a progressive neurodegenerative disorder affecting 1 in 40,000 live births, with most patients presenting with symptoms between the ages of three and twelve months 3.
- LS is typically manifesting in infancy or early childhood, but late-onset cases have been reported, including in adult life 4, 5.
Clinical Manifestations and Diagnosis
- Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities, including psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure 2.
- Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions 4.
- Examinations of fresh muscle tissue or cultured fibroblasts are important tools to establish a biochemical and genetic diagnosis 4.
Treatment and Management
- To date, there is no cure for affected patients, and treatment options are mostly unsatisfactory 4.
- Current treatment is mainly supportive, although some case reports indicate that supplements can improve the condition 6.
- Novel therapies are being continuously tested in pre-clinical studies, and future therapeutical strategies and challenges are also discussed 6.
Neurosurgery or Neurology Case
- Based on the provided evidence, Leigh Syndrome is primarily a neurology case, as it is a neurodegenerative disorder characterized by neurological symptoms and diagnosed through neurological examinations and imaging studies 2, 3, 4, 5, 6.
- While neurosurgery may not be directly involved in the treatment of LS, neurologists play a crucial role in diagnosing and managing the condition.