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Medicina & Laboratorio

2012, Number 05-06

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Medicina & Laboratorio 2012; 18 (05-06)

Berardinelli-Seip syndrome: case report and review of literature

Gutiérrez RJ, Alzate MDC

Language: Spanish
References: 37
Page: 253-260
PDF size: 399.72 Kb.


ABSTRACT

Berardinelli-Seip congenital lipodystrophy is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia. The condition is associated with various dermatological and systemic manifestations. Complications include hypertrophic cardiomyopathy, a fatty liver with hepatic dysfunction, muscular hypetrophy, and various endocrine disturbances. We report a case of this form of lipodystrophy in an 18-year-old female who was admitted with hyperglycaemia without evidence of ketoacidosis or hyperglycemic hyperosmolar state, with hepatomegaly, signs of insulin resistance and absence of adipose tissue. After further investigation, a diagnosis of Berardinelli-Seip syndrome was made. Early recognition of congenital lipodystrophy is essential to prevent complications, and allows genetic and reproductive counseling to patients and their families. A brief review of the literature is also included.


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