Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.
case_report · Level V
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- Record sourced from PubMed, PMID 15127008.
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Abstract
Mutation in ABHD5 causes Dorfman-Chanarin syndrome (DCS), a multisystem triglyceride storage disorder. Ultrastructural study of leukocytes confirmed DCS in a child homozygous for a novel ABHD5 mutation, with ichthyosis, developmental delay, and steatohepatitis with cirrhosis, manifest only as elevated aminotranferase levels. We recommend early assessment for liver disease in DCS.
Medical subject headings
- Fatty Liver
- Hepatitis
- Lipid Metabolism, Inborn Errors
- Liver Cirrhosis
- Triglycerides