CONGENITAL GENERALIZED LIPODYSTROPHY - BERARDINELLI-SYNDROME REPORT OF 2 SIBLINGS

Two successively born infants with Berardinelli syndrome, an unusual l ipodystrophic disease, are reported. In addition to hepatomegaly, acce lerated growth, muscle hypertrophy, lack of adipose tissue, hirsutism and hypertriglyceridemia, which are the characteristics of the syndrom e, 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 me tabolism has not yet been determined.