Leigh syndrome

There is no proven treatment for Leigh syndrome. However, patients with suspected Leigh syndrome should be treated with biotin (10 mg/kg) and thiamine (20 mg/kg) daily, since biotin-thiamine-responsive basal ganglia disease (BTBGD) is a treatable condition that mimics Leigh syndrome.

In addition to biotin and thiamine, it is also reasonable to treat Leigh syndrome empirically with a combination of antioxidant and oxidative phosphorylation cofactors, including CoQ10, carnitine supplementation, vitamin B2 (riboflavin), alpha-lipoic acid, creatine monohydrate, and vitamin E

Was it right to shift to encephalitis antibiotics, regardless of the case improvement?
Yes, it was clinically reasonable to broaden coverage to encephalitis-targeted antibiotics in this context.

Here’s why:

• Leigh syndrome can mimic CNS infections (e.g., altered consciousness, seizures, lactic acidosis).
• However, CNS infections can still occur, and immunocompromised states or metabolic vulnerabilities may predispose to infections or atypical presentations.
• If the initial pneumonia treatment failed and neurological symptoms emerged, it’s justifiable to empirically cover CNS infections (bacterial meningitis/encephalitis), especially in infants.

Typical empirical encephalitis antibiotics include:

• Vancomycin + 3rd gen cephalosporin (like cefotaxime or ceftriaxone) for bacterial causes.
• Acyclovir if viral encephalitis (e.g., HSV) is suspected.

If there’s no lumbar puncture or clear diagnosis at the time, empirical treatment is often the safest route, especially in a deteriorating infant.