alexa Berardinelli – Seip Congenital Lipodystrophy
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Case Report

Berardinelli – Seip Congenital Lipodystrophy

Jagabandhu Ghosh1*and Joydeep Ghosh2

1Department of Paediatrics, I.PGMER & SSKM Hospital, Kolkata, West Bengal, India

2Department of Biotechnology, Heritage Institute of Technology, Kolkata, West Bengal, India

Corresponding Author:
Ghosh JB
MD, Ex-Professor and HOD, IPGME and R Kolkata
Ushashi Housing Society, 245 Vivekananda Road, Kolkata-700006, India
Tel: 9434239336
E-mail: [email protected]

Received Date: September 29, 2014; Accepted Date: November 13, 2014; Published Date: November 20, 2014

Citation: Ghosh J, Ghosh J (2014) Berardinelli – Seip Congenital Lipodystrophy. J Mol Genet Med 8:143. doi:10.4172/1747-0862.1000143

Copyright: © 2014 Ghosh JB, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

 

Abstract

Berardinelli-Seip Congenital lipodystrophy is a rare autosomal recessive disorder characterized by acanthosis nigricans, loss of subcutaneous fat, hepatosplenomegaly, mental retardation, hypertriglyceridemia, insulin resistance. An inability to store energy in adipose tissue is one of the important pathogenetic mechanisms. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperlipidaemia, hyperinsulinaemia, insulin resistance diabetes and acanthosis nigricans. We report here a case of congenital lipodystrophy presenting with seizure and acanthosis nigricans in absence of insulin resistance.

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