What Is Berardinelli-Seip Syndrome?

Introduction

Berardinelli-Seip Syndrome (BSCL), also known as congenital generalized lipodystrophy, is an autosomal recessive disease. It has been described for the first time in 1954 by W. Berardinelli, and confirmed 5 years later by M. Seip¹. The genetic basis remained unknown for several decades until 1999 when the first mutated gene was described. Since then, 3 other genes were discovered and the patients now can be classified in 4 BSCL types according to the gene that is mutated ¹ ².
(ADICIONAR TABELA COM OS TIPOS E AS MUTAÇÕES)
The main feature of this syndrome is the total lack of adipose tissue on the body. However, other clinical features are commonly described like insulin resistance, dyslipidemia and hepatic steatosis with hepatomegaly and umbilical hernia¹ ².

Hernia, by definition, is a circumscribed mass formed by an organ (or a part of an organ) exiting, naturally or accidentally, through an orifice from the cavity that contains it ³. And an umbilical protrusion can be characterized by the presence of a palpable mass, but without organs therein.
This article aims to identify whether BSCL patients have umbilical herniation or protrusion.

Cases and methods

We evaluated 12 patients diagnosed with Berardinelli-Seip Syndrome (8 women and 4 men) for the presence of umbilical hernia or protrusion. Inclusion criteria were: BSCL mutation detected by genetic tests and possibility of clinical examination. We clinically evaluated the patients through abdominal palpation, sensitized by valsalva maneuver.

Results

The average age was 19,67 years (± 10,68), BMI average was 19,3 kg/m² (± 4,01) and body fat average was 5,38% (±0,713). Genetic tests confirmed 9 patients with seipin mutation and 3 patients with AGPAT2. On clinical examination no hernia was detected. However, all 12 patients had umbilical protrusion as exemplified in figures 1 to 12. (ADICIONAR