Literature DB >> 18682927

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.

Michele Gaeta1, Fabio Minutoli, Antonio Toscano, Antonio Celona, Olimpia Musumeci, Sergio Racchiusa, Silvio Mazziotti.   

Abstract

Chanarin-Dorfman disease (CDD) is a rare genetic disorder characterized by ichthyosis, myopathy, central nervous system disturbances, and intracellular lipid storage in muscle fibers, hepatocytes, and granulocytes. We describe skeletal muscle magnetic resonance imaging findings in a case of CDD, outlining the potential role of GE T1-weighted opposed-phase sequence (chemical shift imaging) in the evaluation of lipid storage myopathies.

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Year:  2008        PMID： 18682927     DOI： 10.1007/s00256-008-0559-8

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  13 in total

1.  Neutral-lipid storage disease: a new disorder of lipid metabolism.

Authors:  I Chanarin; A Patel; G Slavin; E J Wills; T M Andrews; G Stewart
Journal:  Br Med J       Date:  1975-03-08

2.  The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

Authors:  G H JORDANS
Journal:  Acta Med Scand       Date:  1953

3.  Abdominal and pelvic applications of opposed-phase MR imaging.

Authors:  J P Earls; G A Krinsky
Journal:  AJR Am J Roentgenol       Date:  1997-10       Impact factor: 3.959

4.  Skeletal muscle triglyceride levels are inversely related to insulin action.

Authors:  D A Pan; S Lillioja; A D Kriketos; M R Milner; L A Baur; C Bogardus; A B Jenkins; L H Storlien
Journal:  Diabetes       Date:  1997-06       Impact factor: 9.461

5.  The use of opposed-phase chemical shift MRI in the diagnosis of renal angiomyolipomas.

Authors:  Gary M Israel; Nicole Hindman; Elizabeth Hecht; Glenn Krinsky
Journal:  AJR Am J Roentgenol       Date:  2005-06       Impact factor: 3.959

6.  In-phase and out-of-phase MR imaging of bone marrow: prediction of neoplasia based on the detection of coexistent fat and water.

Authors:  D G Disler; T R McCauley; L M Ratner; C D Kesack; J A Cooper
Journal:  AJR Am J Roentgenol       Date:  1997-11       Impact factor: 3.959

Review 7.  Role of proton MR for the study of muscle lipid metabolism.

Authors:  Chris Boesch; Juergen Machann; Peter Vermathen; Fritz Schick
Journal:  NMR Biomed       Date:  2006-11       Impact factor: 4.044

8.  Lipid storage myopathy, ichthyosis, and steatorrhea.

Authors:  A Miranda; S DiMauro; A Eastwood; A Hays; W G Johnson; M Olarte; R Whitlock; R Mayeux; L P Rowland
Journal:  Muscle Nerve       Date:  1979 Jan-Feb       Impact factor: 3.217

9.  Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Authors:  Claudio Bruno; Enrico Bertini; Maja Di Rocco; Denise Cassandrini; Giuseppe Ruffa; Teresa De Toni; Marco Seri; Marco Spada; Giovanni Li Volti; Adele D'Amico; Federica Trucco; Marcello Arca; Carlo Casali; Corrado Angelini; Salvatore Dimauro; Carlo Minetti
Journal:  Biochem Biophys Res Commun       Date:  2008-03-11       Impact factor: 3.575

10.  Thymic hyperplasia and thymus gland tumors: differentiation with chemical shift MR imaging.

Authors:  Tsutomu Inaoka; Koji Takahashi; Masayuki Mineta; Tomonori Yamada; Noriyuki Shuke; Atsutaka Okizaki; Kenichi Nagasawa; Hiroyuki Sugimori; Tamio Aburano
Journal:  Radiology       Date:  2007-04-26       Impact factor: 11.105
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  5 in total

1.  MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.

Authors:  Michele Gaeta; Achille Mileto; Anna Mazzeo; Fabio Minutoli; Rita Di Leo; Nicola Settineri; Rocco Donato; Giorgio Ascenti; Alfredo Blandino
Journal:  Skeletal Radiol       Date:  2011-05-25       Impact factor: 2.199

2.  Chemical shift-based water/fat separation in the presence of susceptibility-induced fat resonance shift.

Authors:  Dimitrios C Karampinos; Huanzhou Yu; Ann Shimakawa; Thomas M Link; Sharmila Majumdar
Journal:  Magn Reson Med       Date:  2012-01-13       Impact factor: 4.668

Review 3.  [Lipid storage myopathies. A clinical and pathobiochemical challenge].

Authors:  T Skuban; T Klopstock; B Schoser
Journal:  Nervenarzt       Date:  2010-12       Impact factor: 1.214

4.  Muscle MRI in neutral lipid storage disease (NLSD).

Authors:  Matteo Garibaldi; Giorgio Tasca; Jordi Diaz-Manera; Pierfancesco Ottaviani; Francesco Laschena; Donatella Pantoli; Simonetta Gerevini; Chiara Fiorillo; Lorenzo Maggi; Elisabetta Tasca; Adele D'Amico; Olimpia Musumeci; Antonio Toscano; Claudio Bruno; Roberto Massa; Corrado Angelini; Enrico Bertini; Giovanni Antonini; Elena Maria Pennisi
Journal:  J Neurol       Date:  2017-05-13       Impact factor: 4.849

5.  Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Authors:  Elena Maria Pennisi; Marcello Arca; Enrico Bertini; Claudio Bruno; Denise Cassandrini; Adele D'amico; Matteo Garibaldi; Francesca Gragnani; Lorenzo Maggi; Roberto Massa; Sara Missaglia; Lucia Morandi; Olimpia Musumeci; Elena Pegoraro; Emanuele Rastelli; Filippo Maria Santorelli; Elisabetta Tasca; Daniela Tavian; Antonio Toscano; Corrado Angelini
Journal:  Orphanet J Rare Dis       Date:  2017-05-12       Impact factor: 4.123
  5 in total

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