ABSTRACT

Lipid storage myopathies are a heterogeneous group of diseases that are caused by the defect of an enzyme at any level of lipid metabolism and transmitted genetically. The main symptoms are hypotonia and convulsions in the newborn, and progressive repetitive weakness attacks with progressive proximal weakness or myoglobinuria/rhabdomyolysis in adults. A twenty-year-old male patient admitted to the hospital with prominent weakness attacks triggered with prolonged starvation or intense exercise. In patient's own expression his urine was sometimes very dark, especially during the attacks. Blood urea nitrogen, creatinine, creatine phosphokinase, alanin aminotransferase and aspartat aminotransferase levels were high. Elevated enzymes decreased to normal levels after the attack. A muscle biopsy was performed with a probable diagnosis of metabolic myopathy. Neutral lipid globules were detected to be accumulated much more than normal. The patient was diagnosed to have lipid storage myopathy after clinicopathologic evaluation. Effects of lipid metabolism disorders are variable on striated muscle tissue. Lack of lipid accumulation in muscle tissue is not enough to exclude disorders of lipid metabolism. It should be kept in mind that this disease may present as acute renal failure triggered by rhabdomyolysis/myoglobinuria.