title: Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A.
abstract: BACKGROUND
  We describe the clinical and muscle MRI changes in 2 siblings with neutral lipid storage disease with myopathy (NLSDM) carrying the mutation c.187+1G>A.
  
  
  METHODS
  Peripheral blood smears, genetic tests, and muscle biopsies were performed. Thigh MRI was performed to observe fatty replacement, muscle edema, and muscle bulk from axial sections.
  
  
  RESULTS
  Both siblings had similar fatty infiltration and edema. T1-weighted images of the gluteus maximus, adductor magnus, semitendinosus, and semimembranosus revealed marked and diffuse fatty infiltration. There was asymmetric involvement in biceps femoris and quadriceps. There was extensive fatty infiltration in the quadriceps, except for the rectus femoris. Gracilis and sartorius were relatively spared. Thigh muscle volume was decreased, while the gracilis and sartorius appeared to show compensatory hypertrophy.
  
  
  CONCLUSIONS
  Compared with previous reports in NLSDM, MRI changes in this myopathy tended to be more severe. Asymmetry and relatively selective fatty infiltration were characteristics.
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Chunxiao
authors.initials: C
authors.lastname: Xu
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Yawen
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Zhaoxia
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D013848:Thigh / Q000473:pathology; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases
keywords: adipose triglyceride lipase gene; magnetic resonance imaging; mutation c.187+1G>A; myopathy; neutral lipid storage disease; patatin-like phospholipase domain-containing 2