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

Abstract

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.