Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy.
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 ventilation, 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.
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Yuanda
Y
Xu
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Li
L
Zhou
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Weibo
W
Liang
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Weiqun
W
He
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Xiaoqing
X
Liu
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Xiuling
X
Liang
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Nanshan
N
Zhong
State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, No.151 Yanjiang Road West, Guangzhou 510120, Guangdong, China.
Yimin
Y
Li
D000293:Adolescent; D001991:Bronchitis / Q000209:etiology; D002331:Carnitine / Q000627:therapeutic use; D005260:Female; D006801:Humans; D065906:Hyperlactatemia / Q000209:etiology*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy; D018908:Muscle Weakness / Q000209:etiology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000188:drug therapy; D011014:Pneumonia / Q000209:etiology
D002331:Carnitine