Article ; Online: Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2022 Volume 32, Issue 6, Page(s) 817–819
Abstract: Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a genetic disorder where there is an absolute deficiency of adipose tissue. It affects the development of adipocytes and ultimately leads to an ... ...
Abstract | Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a genetic disorder where there is an absolute deficiency of adipose tissue. It affects the development of adipocytes and ultimately leads to an inability to store fat in adipocytes. It is extremely rare. Most of the cases reported are from Africa and North America. Only a handful of cases have been reported in the world. The aim of this case report is to highlight the significance of this rare metabolic disorder, which should be considered whilst managing young patients with severe insulin resistance. We present a case of a young Asian child with an increasing need for insulin for his diabetes. He was previously managed on the lines of type 1 diabetes mellitus and his insulin requirements kept on increasing. Diagnosis on the basis of genetic studies was not possible due to the non-availability of the test in Pakistan. BSCL is an infrequent condition leading to several cardiometabolic complications. Timely diagnosis can lead to better management and prevention of complications. Keywords: Insulin resistance, Lipodystrophy, Acanthosis nigricans, Hypertriglyceridemia, Genetic disease. |
---|---|
MeSH term(s) | Acanthosis Nigricans ; Child ; Humans ; Insulin/therapeutic use ; Insulin Resistance ; Lipodystrophy, Congenital Generalized/complications ; Lipodystrophy, Congenital Generalized/diagnosis ; Lipodystrophy, Congenital Generalized/genetics ; Male ; Rare Diseases |
Chemical Substances | Insulin |
Language | English |
Publishing date | 2022-01-04 |
Publishing country | Pakistan |
Document type | Case Reports ; Review |
ZDB-ID | 2276646-7 |
ISSN | 1681-7168 ; 1022-386X |
ISSN (online) | 1681-7168 |
ISSN | 1022-386X |
DOI | 10.29271/jcpsp.2022.06.817 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
Zs.A 6532: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.