Seip-Berardinelli lipodystrophy (SBLD) is a rare autosomal recessive type of congenital lipodystrophic diabetes. It is characterized by a generalized loss of subcutaneous adipose tissue which gives the appearance of muscolar hypertrophy, normal growth development, hepatomegaly, hypertrigliceridaemia, hypertrophy of external genitalia and insulin resistant diabetes. We report a case of α 14 years old mediterranean female, affected by SBLD with a lack of subcutaneous fat, hyperlipidemia and hepatomegaly, impaired glucose tolerance and acanthosis nigricans. In order to evaluate the insulin sensitivity, we have performed an euglicemic hyperinsulinemic clamp (EHC) that showed a mild degree of insulin resistance. No abnormalities in the number of high affinity insulin binding sites were detected and insulin receptor antibodies were not found. The diagnosis of SBLD in pediatric age is essentially clinic: the insulin resistance diabetes develops in adolescent age. In our patient, we will expect a progressive worsening of the insulin resistance and an evolution in an overt diabetes. EHC represents the most reliable technique to evaluate insulin resistance «in vivo» in SBLD.
|Translated title of the contribution||SEIP-Berardinelli syndrome: Case report|
|Number of pages||5|
|Journal||Rivista Italiana di Pediatria|
|Publication status||Published - 1998|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health