Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings

Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings

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Two successively born infants with Berardinelli syndrome, an unusual lipodystrophic disease, are reported.In addition to hepatomegaly, accelerated growth, muscle hypertrophy, lack of adipose tissue, bar drain board hirsutism and hypertriglyceridemia, which are the characteristics of the syndrome, these brothers demonstrated bilateral, symmetrical, renal medullary hyperechogenicity, which has not before been reported in association with generalized lipodystrophy.Although more than 25 cases have been recorded, the metabolic defect responsible for this inborn error of metabolism has not korpskaft yet been determined.