A Rare Cause of Nonalcoholic Fatty Liver Disease
Authors: Sandra Ciesek, Johannes Hadem, Judith Fischer, Michael P. Manns, Christian P. Strassburg
Journal: Annals of Internal Medicine (2006)

Letters18 July 2006A Rare Cause of Nonalcoholic Fatty Liver DiseaseSandra Ciesek, MD, Johannes Hadem, MD, Judith Fischer, MD, PhD, Michael P. Manns, MD, and Christian P. Strassburg, MDSandra Ciesek, MDFrom Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.Search for more papers by this author, Johannes Hadem, MDFrom Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.Search for more papers by this author, Judith Fischer, MD, PhDFrom Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.Search for more papers by this author, Michael P. Manns, MDFrom Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.Search for more papers by this author, and Christian P. Strassburg, MDFrom Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-145-2-200607180-00021 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Nonalcoholic fatty liver disease is growing more common as the prevalence of obesity and the metabolic syndrome rises. In contrast, ichthyotic neutral lipid storage disease (NLSD) is a rare hereditary disorder that affects multiple systems. Two thirds of patients with the disease (which is also known as the Chanarin–Dorfman syndrome) have severe fatty liver disease with congenital ichthyosis, myopathy, cataracts, and neurologic disease that compromises vision and hearing.Objective: To report a case of NLSD that was misdiagnosed as nonalcoholic fatty liver disease several years earlier.Case Report: In August 2004, a 48-year-old man with a 4-year history of ...References1. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol. 1974;110:261-6. [PMID: 4277517] CrossrefMedlineGoogle Scholar2. Jordans GH. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). Acta Med Scand. 1953;145:419-23. [PMID: 13079655] CrossrefMedlineGoogle Scholar3. Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001;69:1002-12. [PMID: 11590543] CrossrefMedlineGoogle Scholar4. Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J. CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome [Letter]. Am J Med Genet A. 2004;129:214. [PMID: 15316960] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoCorrection: A Rare Cause of Nonalcoholic Fatty Liver Disease Metrics Cited ByChanarin‐Dorfman Syndrome: A comprehensive reviewCGI-58: Versatile Regulator of Intracellular Lipid Droplet HomeostasisDeficiency of liver Comparative Gene Identification-58 causes steatohepatitis and fibrosis in miceClinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 geneSevere steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutationPediatric nonalcoholic fatty liver disease (NAFLD): A “growing” problem?Correction: A Rare Cause of Nonalcoholic Fatty Liver Disease 18 July 2006Volume 145, Issue 2Page: 154-155KeywordsCataractsFatty liverGenetic diseasesHearingLipidsLiver diseasesLiver fibrosisLiver transplantationNeutrophilsNon-alcoholic fatty liver disease ePublished: 18 July 2006 Issue Published: 18 July 2006 CopyrightCopyright © 2006 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...