SEIP-Berardinelli syndrome: case report

Seip-Berardinelli lipodystrophy (SBLD) is a rare autosomal recessive type o f congenital lipodystrophic diabetes. It is characterized by a generalized loss of subcutaneous adipose tissue which gives the appearance of muscular hypertrophy, normal growth development, hepatomegaly, hypertrigliceridaemia , hypertrophy of external genitalia and insulin resistant diabetes. We report a case of a 14 years old mediterranean female, affected by SBLD w ith a lack of subcutaneous fat, hyperlipidemia and hepatomegaly, impaired g lucose 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 nu mber of high affinity insulin binding sites were detected and insulin recep tor antibodies were not found. The diagnosis of SBLD in pediatric age is essentially clinic: the insulin r esistance diabetes develops in adolescent age. In our patient, we will expe ct a progressive worsening of the insulin resistance and an evolution in ai l overt diabetes. EHC represents the most reliable technique to evaluate in sulin resistance <<in vivo>> in SBLD.