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Mol Genet Metab. 2013 Jun;109(2):227-9. doi: 10.1016/j.ymgme.2013.04.011. Epub 2013 Apr 23.

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.

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Metabolic Unit, Department of Medical Genetics, CHU and University de Liège, Domaine Sart-Tilman Bât B35, B-4000 Liège, Belgium.


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.

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