Background: Lipid storage diseases are presenting as exercise intolerance or muscle weakness, sometimes accompanied by with systemic symptoms. These disorders develop due to deficient of lipid metabolism and characterised by the accumulation of abnormal amounts of neutral fat in muscle fibres.
Case reports: A 24 year-old man applied to our clinic complaining of weakness while walking and severe pain.
Increase of creatin kinase, myoglobinuri, myogenic changes in EMG, lipid storage in muscle biopsy, elevated liver enzyme and hepatomegaly were determined. These symptoms were found harmonious neutral lipid storage disease with myopathy.
Purpose: We discussed this very rarely seen case with literature.
Key Words: Lipid, Myopathy, Creatin Kinase, Hepatomegaly
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