La sindrome di SEIP-Berardinelli: Descrizione di un caso clinico

Translated title of the contribution: SEIP-Berardinelli syndrome: Case report

M. Pelegrini, M. C. Diana, C. Bruno, F. Prigione, A. Campostano, M. Mazzella, R. Cordera, M. Cotellessa

Research output: Contribution to journalArticlepeer-review

Abstract

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 contributionSEIP-Berardinelli syndrome: Case report
Original languageItalian
Pages (from-to)1160-1164
Number of pages5
JournalRivista Italiana di Pediatria
Volume24
Issue number6
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'SEIP-Berardinelli syndrome: Case report'. Together they form a unique fingerprint.

Cite this