CLINICAL MANIFESTATION, MUSCLE PATHOLOGY AND RECENT FOLLOW-UP RESULTS OF 16 PA- TIENTS WITH LIPID STORAGE MYOPATHY

Xu-En Yu1, Yong-Zhu han1, REn-Min Yang1, Jun-Cang Wu2 , Juan Wang*2

1Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine, Hefei 230061, China - 2Department of Neurology, Second People’s Hospital of Hefei City, Hefei 230011, China

 Objective: This study was designed to investigate and summarize the clinical manifestations, muscular pathological features and short-term follow-up data of patients with lipid storage myopathy (LSM).

Methods: The clinical manifestations, muscular pathological features and short-term follow-up data of 16 LSM patients were retrospectively analyzed. These patients were diagnosed and treated in the Second People’s Hospital of Hefei and the Neurology De- partment of the Affiliated Hospital of the Institute of Neurology of Anhui University of TCM from December 2009 to December 2017.

Results: Among these 16 LSM patients, 11 patients were male and five patients were female. The age at onset was 4-48 years old, with an average age of 24.1 ± 12.4 years old. Nine patients had weakness of the lower extremities as the first symptom, and four patients had vertical neck and laborious chewing. Furthermore, serum creatine kinase levels were slightly elevated in 12 patients and normal in four patients. Electromyography revealed myogenic damage in nine patients, and neurogenic damage in five patients. Muscle pathology revealed vacuolar fibers in all 16 patients, which mainly presented as type I muscle fibers, and the number of lipid droplets significantly increased. All 16 patients were treated with a large dose of vitamin B2 after a definite diagnosis, and followed up for one month,three months and six months. After six months, the symptoms of all patients completely improved.

Conclusions: LSM is a treatable muscle disease. However, its clinical manifestations vary. This easily leads to misdiagnosis and missed diagnosis. Muscle pathology is a key method for the diagnosis of the disease. Generally, the short-term prognosis is good after treatment.