Journal
MOLECULAR GENETICS AND METABOLISM
Volume 109, Issue 2, Pages 227-229Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2013.04.011
Keywords
Lipodystrophy; Hypertrophic cardiomyopathy; Overgrowth; Hypertriglyceridemia; Insulin resistance
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Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and severe hypertrophic cardiomyopathy. Despite this multisystemic involvement and contrasting with a cachectic appearance, the anthropometric parameters showed marked overgrowth (+4 DS), leading to diagnosis of congenital lipodystrophy, which was confirmed by the presence of the new homozygous c.259C>T (p.Gln87*) mutation in the AGPAT2 gene. Early infantile cardiomyopathy should be considered as a specific endophenotype in Berardinelli-Seip Congenital Lipodystrophy syndrome. (C) 2013 Elsevier Inc. All rights reserved.
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