Berardinelli-Seip Syndrome: A Rare Autosomal Disorder

  • Anam Arif King Edward Medical University/Mayo Hospital, Lahore
  • Muhammad Faheem Afzal King Edward Medical University/Mayo Hospital, Lahore
  • Muhammad Haroon Hamid King Edward Medical University/Mayo Hospital, Lahore
Keywords: lipodystrophy, lipoatrophy, insulin resistance

Abstract

Berardinelli-Seip syndrome or congenital generalized lipodystrophy, is a rare autosomal recessive disease caused by dysregulation of lipid and glycemic metabolism. Common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. We report an 11-year-old boy presenting with generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck, axillae and inguinal folds associated with hyperglycemia. The clinical diagnosis of Berardinelli-Seip syndrome was made.

Author Biographies

Anam Arif, King Edward Medical University/Mayo Hospital, Lahore

Post Graduate Resident,

Department of Paediatrics,

King Edward Medical University/Mayo Hospital, Lahore

Muhammad Faheem Afzal, King Edward Medical University/Mayo Hospital, Lahore

Associate Professor,

Department of Paediatrics,

King Edward Medical University/Mayo Hospital, Lahore

Muhammad Haroon Hamid, King Edward Medical University/Mayo Hospital, Lahore

Chairman/Professor,

Department of Paediatrics,

King Edward Medical University/Mayo Hospital, Lahore

Published
2019-10-11
How to Cite
Arif, A., Afzal, M. F., & Hamid, M. H. (2019). Berardinelli-Seip Syndrome: A Rare Autosomal Disorder. Annals of King Edward Medical University, 25(3). Retrieved from https://www.annalskemu.org/journal/index.php/annals/article/view/3039
Section
Case Reports