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A Rare Cause of Nonalcoholic Fatty Liver Disease
- Sandra Ciesek, MD;
- Johannes Hadem, MD;
- Judith Fischer, MD, PhD;
- Michael P. Manns, MD; and
- Christian P. Strassburg, MD
- From Hannover Medical School, Hannover 30625, Germany, and Centre National de Génotypage, Maladies Dermatologiques, Evry, France.
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 hepatic fibrosis and a 27-year history of fatty liver disease was seen in the liver transplantation outpatient clinic for a routine physical examination. Results of laboratory studies showed the following: prothrombin time, 45%; platelet count, 37 × 109 cells/L; serum aspartate aminotransferase level, 99 U/L; and serum alanine aminotransferase level, …
This 100-word excerpt has been provided in the absence of an abstract.
