title: 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 cardiometabolic risks appear mandatory in the clinical follow-up of these subjects.
authors: AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. pascal.laforet@psl.aphp.fr
authors: Pascal
authors: P
authors: Laforêt
authors: Tanya
authors: T
authors: Stojkovic
authors: Guillaume
authors: G
authors: Bassez
authors: Pierre G
authors: PG
authors: Carlier
authors: Karine
authors: K
authors: Clément
authors: Karim
authors: K
authors: Wahbi
authors: François M
authors: FM
authors: Petit
authors: Bruno
authors: B
authors: Eymard
authors: Robert-Yves
authors: RY
authors: Carlier
mesh_terms: D000273:Adipose Tissue / Q000378:metabolism / Q000473:pathology; D000328:Adult; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D051598:Whole Body Imaging