Huma Arshad Cheema, Hassan Suleman Malik, Nadia Waheed, Iqra Mushtaq, Zafar Fayyaz, Mohammad Nadeem Anjum.
Berardinelli-Seip Congenital Generalised Lipodystrophy.
J Coll Physicians Surg Pak Jan ;28(5):406-8.

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. BSCL is characterized by marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. We could not perform genetics studies in any patient owing to non-availability of genetic laboratory in Pakistan. All the cases presented hypertriglyceridemia. One case developed hyperinsulinism controlled with metformin. There is no curative treatment and the current approach is low-fat diet and management of insulin resistance and diabetes. Recently published studies showed that leptin-replacement therapy is promising in the metabolic correction of complications of BSCL. This highlights the importance of further research in BSCL treatment.

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