Reversible alexia, mitochondrial myopathy, and lactic acidemia.

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Mitochondrial myopathies are a group of inherited disorders affecting muscle energy production.
• Neurological manifestations in mitochondrial myopathies can be diverse and progressive.

Observation:

• An 11-year-old boy presented with short stature, recurrent headaches, and acute visual loss.
• Clinical examination revealed left hemianopia, alexia without agraphia, and diffuse muscle weakness.

Findings:

• Investigation confirmed mitochondrial myopathy with pyruvate and lactic acidemia and elevated serum sarcoplasmic enzymes.
• Treatment with prednisone led to significant improvement in muscle strength, reading ability, and normalization of enzyme levels.
• Steroid withdrawal precipitated symptom exacerbation, including seizures, weakness, and elevated enzymes, all reversible upon reintroduction of steroids.

Implications:

• This case highlights the potential for steroid-responsive neurological deficits in mitochondrial myopathies.
• Early diagnosis and management with corticosteroids may improve outcomes in affected children.
• The reversibility of alexia and other neurological symptoms underscores the importance of prompt therapeutic intervention.