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Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study

Abstract

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 cardio-metabolic risks appear mandatory in the clinical follow-up  More>>
Authors:
Laforet, Pascal; Stojkovic, Tanya; Wahbi, Karim; Eymard, Bruno; [1]  Bassez, Guillaume; [2]  Carlier, Pierre G.; [3]  Clement, Karine; [4]  Petit, Francois M.; [5]  Carlier, Robert-Yves [6] 
  1. AP-HP, Centre de Reference de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitie-Salpetriere, Assistance Publique-Hopitaux de Paris, Paris, (France)
  2. AP-HP, Centre de Reference de Pathologie Neuromusculaire Paris-Ouest, CHU Henri Mondor, Creteil, (France)
  3. CEA, I2BM, MIRCen, IdM NMR Laboratory, T-75651 Paris, (France)
  4. AP-HP, Institute of Cardiometabolism and Nutrition, ICAN, Pitie-Salpetriere Hospital, University Pierre et Marie-Curie Paris6, Paris, INSERM, U872 team 7, Paris, (France)
  5. AP-HP, Molecular Genetics and Metabolic Diseases Laboratory, Antoine Beclere Hospital, Clamart, (France)
  6. AP-HP, Departement d'imagerie Medicale et Centre d'innovation Technologique, CHU Raymond-Poincare, Garches, (France)
Publication Date:
Jul 01, 2013
Product Type:
Journal Article
Resource Relation:
Journal Name: Molecular Genetics and Metabolism (Print); Journal Volume: 108; Other Information: 17 refs.; Country of input: France
Subject:
62 RADIOLOGY AND NUCLEAR MEDICINE; 60 APPLIED LIFE SCIENCES; DIABETES MELLITUS; HEART; LIPASES; NMR IMAGING; TRIGLYCERIDES; WHOLE-BODY IRRADIATION
OSTI ID:
22459150
Country of Origin:
United States
Language:
English
Other Identifying Numbers:
Journal ID: ISSN 1096-7192; TRN: FR16J0852028742
Availability:
Available from doi: http://dx.doi.org/10.1016/j.ymgme.2012.12.004
Submitting Site:
INIS
Size:
page(s) 125-131
Announcement Date:
Apr 08, 2016

Citation Formats

Laforet, Pascal, Stojkovic, Tanya, Wahbi, Karim, Eymard, Bruno, Bassez, Guillaume, Carlier, Pierre G., Clement, Karine, Petit, Francois M., and Carlier, Robert-Yves. Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study. United States: N. p., 2013. Web. doi:10.1016/J.YMGME.2012.12.004.
Laforet, Pascal, Stojkovic, Tanya, Wahbi, Karim, Eymard, Bruno, Bassez, Guillaume, Carlier, Pierre G., Clement, Karine, Petit, Francois M., & Carlier, Robert-Yves. Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study. United States. doi:10.1016/J.YMGME.2012.12.004.
Laforet, Pascal, Stojkovic, Tanya, Wahbi, Karim, Eymard, Bruno, Bassez, Guillaume, Carlier, Pierre G., Clement, Karine, Petit, Francois M., and Carlier, Robert-Yves. 2013. "Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study." United States. doi:10.1016/J.YMGME.2012.12.004. https://www.osti.gov/servlets/purl/10.1016/J.YMGME.2012.12.004.
@misc{etde_22459150,
title = {Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study}
author = {Laforet, Pascal, Stojkovic, Tanya, Wahbi, Karim, Eymard, Bruno, Bassez, Guillaume, Carlier, Pierre G., Clement, Karine, Petit, Francois M., and Carlier, Robert-Yves}
abstractNote = {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 cardio-metabolic risks appear mandatory in the clinical follow-up of these subjects. (authors)}
doi = {10.1016/J.YMGME.2012.12.004}
journal = {Molecular Genetics and Metabolism (Print)}
volume = {108}
journal type = {AC}
place = {United States}
year = {2013}
month = {Jul}
}