Journal
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
Volume 32, Issue 6, Pages 817-819Publisher
COLL PHYSICIANS & SURGEONS PAKISTAN
DOI: 10.29271/jcpsp.2022.06.817
Keywords
Insulin resistance; Lipodystrophy; Acanthosis nigricans; Hypertriglyceridemia; Genetic disease
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BSCL is a rare genetic disorder that leads to an absolute deficiency of adipose tissue and can cause severe insulin resistance. It is important to consider this condition when managing young patients with insulin resistance.
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.
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