Author/Authors :
Xu, Yuanda State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China , Liang, Weibo State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China , He, Weiqun State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China , Liu, Xiaoqing State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China , Liangm, Xiuling State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China , Zhong, Nanshan State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China , Li, Yimin State Key Laboratory of Respiratory Disease - Guangzhou Medical University, Guangdong, China
Abstract :
Lipid storage myopathy is a metabolic disorder characterized by abnormal lipid accumulation in muscle fibers and progressive muscle weakness.
Here, we report the case of a 17-year-old woman with progressive muscle weakness, refractory hyperlactatemia, and multiple organ insufficiency. Severe pneumonia was the initial diagnosis. After anti-infective treatment, fluid resuscitation, and mechanical ventilationو the patient’s symptoms improved but hyperlactatemia and muscle weakness persisted. She was empirically treated with carnitine. Biochemical tests, electromyography, and muscle biopsy confirmed lipid storage myopathy. After 7 weeks of treatment, the patient resumed normal daily life.
An empirical treatment with carnitine may be beneficial for patients before an accurate diagnosis of lipid storage myopathy is made.
Keywords :
Carnitine , hyperlactatemia , lipid storage myopathy , respiratory failure , septic shock
