Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings
Gürakan, F.; Koçak, N.; Yüce, A.
Turkish Journal of Pediatrics 37(3): 241-246
1995
ISSN/ISBN: 0041-4301 PMID: 7502362 Document Number: 452895
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, 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 yet been determined.