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Neutral Lipid Storage Disease With Myopathy and Infiltrative Cardiomyopathy Initially Presenting as Right Arm
Justin Brilliant1, Christopher Krogh1, Diljon Chahal1
1Department of Medicine, Department of Cardiovascular Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
JACC. Case Reports
|December 18, 2024
Summary
Neutral lipid storage disease with myopathy is a rare genetic disorder causing fat buildup in muscles. Early diagnosis and a team-based treatment approach are crucial due to varied symptoms.
Area of Science:
- Genetics
- Cell Biology
- Neurology
Background:
- Neutral lipid storage disease with myopathy (NLSDM) is a rare genetic disorder characterized by abnormal lipid metabolism.
- It involves the accumulation of neutral lipid droplets within skeletal and cardiac muscle cells.
Observation:
- Patients exhibit a wide spectrum of clinical presentations, making diagnosis challenging.
- Muscle weakness and cardiac involvement are key features.
Findings:
- NLSDM results from impaired intracellular lipolysis, leading to lipid accumulation.
- The genetic basis underlies the observed myopathy and potential cardiac issues.
Implications:
- A multidisciplinary approach is vital for accurate diagnosis and effective management of NLSDM.
- Understanding the disease mechanism can inform therapeutic strategies for lipid metabolism disorders.
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