A Case of Berardinelli Lipodystrophy Syndrome.
- Author:
Jin Soon HWANG
;
Jung Sub LIM
;
Se Young KIM
;
Kye Shik SHIM
;
Sei Won YANG
;
Jee Suk YU
- Publication Type:Case Report
- Keywords:
Berardinelli Lipodystrophy Syndrome
- MeSH:
Acanthosis Nigricans;
Adipose Tissue;
Female;
Hepatomegaly;
Humans;
Hyperlipidemias;
Hypertrophy;
Insulin;
Lipodystrophy*
- From:Journal of Korean Society of Pediatric Endocrinology
1997;2(2):274-276
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Berardinelli lipodystrophy syndrome is a rare autosomal recessive disorder, characterized by loss of body fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, hyperlipidemia, insulin resistant diabetes, and elevated metabolic rate. The mechanism(s) responsible for these abnormalities is not known. We report a forteen-month old girl with Berardinelli Lipodystriphy Syndrome, who had signs above mentioned, with a brief review and its related literatures.