Case Study of an Elderly Patient With New Onset Weakness

Area of Science:

• Neurology
• Metabolic Disorders
• Muscle Physiology

Background:

• Systemic carnitine deficiency is a rare metabolic disorder affecting fatty acid oxidation.
• It can manifest with diverse clinical symptoms, including muscle weakness.

Observation:

• A patient presented with new-onset progressive proximal muscle weakness in upper and lower limbs.
• Examination revealed preserved reflexes and no sensory involvement, with elevated creatine kinase levels.
• Electromyography showed myopathic features and myotonic discharges.

Findings:

• Muscle biopsy revealed vacuolization and increased fat content.
• Significantly reduced carnitine levels and elevated carnitine palmitoyltransferase confirmed systemic carnitine deficiency.
• No secondary causes were identified, suggesting a primary deficiency.

Implications:

• This case underscores the importance of considering metabolic myopathies in patients with unexplained proximal weakness.
• Early diagnosis and L-Carnitine supplementation are crucial for managing primary systemic carnitine deficiency.
• This highlights the critical role of carnitine in muscle energy metabolism.