PMID- 23333026
OWN - NLM
STAT- MEDLINE
DCOM- 20130702
LR  - 20130129
IS  - 1096-7206 (Electronic)
IS  - 1096-7192 (Linking)
VI  - 108
IP  - 2
DP  - 2013 Feb
TI  - Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and 
      metabolic study.
PG  - 125-31
LID - S1096-7192(12)00717-2 [pii]
LID - 10.1016/j.ymgme.2012.12.004 [doi]
AB  - Neutral lipid storage disease with myopathy (NLSDM) is caused by a mutation in 
      the gene encoding adipose triglyceride lipase (ATGL), and is characterized by the 
      presence of numerous triglyceride-containing cytoplasmic droplets in type I 
      muscle fibers. Major clinical manifestations concern the heart and skeletal 
      muscle, and some patients also present diabetes mellitus. We report the clinical, 
      metabolic, and whole-body nuclear magnetic resonance imaging findings of three 
      patients with NLSDM. Muscle MRI study was consistent with previous descriptions, 
      and allowed to show a common pattern of fatty replacement. Muscle changes 
      predominated in the paravertebral muscles, both compartments of legs, and 
      posterior compartment of the thighs. A more variable distribution of muscle 
      involvement was observed on upper limbs, with marked asymmetry in one patient, 
      and alterations predominating on supra and infra spinatus, biceps brachialis and 
      anterior compartment of arms. Cardiac NMR studies revealed anomalies despite 
      normal echocardiography in two patients. Endocrine studies showed low leptin and 
      adiponectine levels, a moderate increase in insulin levels at fasting state, and 
      even greater increase after oral glucose tolerance test in one patient. Two 
      patients had elevated triglycerides and low cholesterol-HDL. Based on these 
      analyses, regular control of cardiometabolic risks appear mandatory in the 
      clinical follow-up of these subjects.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Laforet, Pascal
AU  - Laforet P
AD  - AP-HP, Centre de Reference de pathologie neuromusculaire Paris-Est, Groupe 
      Hospitalier Pitie-Salpetriere, Assistance Publique-Hopitaux de Paris, Paris, 
      France. pascal.laforet@psl.aphp.fr
FAU - Stojkovic, Tanya
AU  - Stojkovic T
FAU - Bassez, Guillaume
AU  - Bassez G
FAU - Carlier, Pierre G
AU  - Carlier PG
FAU - Clement, Karine
AU  - Clement K
FAU - Wahbi, Karim
AU  - Wahbi K
FAU - Petit, Francois M
AU  - Petit FM
FAU - Eymard, Bruno
AU  - Eymard B
FAU - Carlier, Robert-Yves
AU  - Carlier RY
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20121228
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - Neutral Lipid Storage Disease with Myopathy
SB  - IM
MH  - Adipose Tissue/metabolism/pathology
MH  - Adult
MH  - Female
MH  - Humans
MH  - Lipid Metabolism, Inborn Errors/*diagnosis/genetics/metabolism
MH  - *Magnetic Resonance Imaging
MH  - Male
MH  - Muscle, Skeletal/metabolism/pathology
MH  - Muscular Diseases/*diagnosis/genetics/metabolism
MH  - Mutation
MH  - *Whole Body Imaging
EDAT- 2013/01/22 06:00
MHDA- 2013/07/03 06:00
CRDT- 2013/01/22 06:00
PHST- 2012/09/30 00:00 [received]
PHST- 2012/12/19 00:00 [revised]
PHST- 2012/12/19 00:00 [accepted]
PHST- 2013/01/22 06:00 [entrez]
PHST- 2013/01/22 06:00 [pubmed]
PHST- 2013/07/03 06:00 [medline]
AID - S1096-7192(12)00717-2 [pii]
AID - 10.1016/j.ymgme.2012.12.004 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2013 Feb;108(2):125-31. doi: 10.1016/j.ymgme.2012.12.004. Epub 
      2012 Dec 28.