Berardinelli-Seip Syndrome Essay

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We report a series of cases of Berardinelli-Seip syndrome (congenital generalized lipodystrophy). This is a rare autosomal recessive disease. In our region, we have a higher prevalence than that reported in the literature. This is probably due to frequent marriages that occur between relatives. Unlike the literature data, we did not find any case of umbilical hernia in our patients. However, all patients had protrusion of the umbilicus due to lack of subcutaneous adipose tissue. Upon inspection, at a glance, this protrusion really looks like a hernia (Figure 1). Due to the rarity of the disease, physicians less aware of this syndrome could confuse this protrusion with an umbilical hernia. This could explain the frequent hernia reports in the …show more content…

We did not perform ultrasound exams to confirm the absence of hernia. We can hypothesize our physical examination could not be good enough for the diagnosis. In this case, in the absence of a correct diagnosis, patients should develop symptoms. Pain at the umbilicus (44%), pressure in the abdomen (20%) and nausea and vomiting (9%) are the most common symptoms (5), but no patient reported such symptoms. We could also think that these patients do not have congenital generalized lipodystrophy, explaining the absence of hernia. All patients had clinical features consistent with the diagnosis of BSCL. In addition, serum leptin and total body fat measured by DXA were very low. If that was not enough, all patients had confirmed mutations, ruling out the possibility they do not have the syndrome. There are four types of BSCL and here we report only cases of Types 1 and 2. The umbilical hernia could be more common in the Types 3 and 4, explaining the lack of diagnosis in our patients. However, the Types 1 and 2 account for 95% of all reported cases of BSCL (6) and Type 2 (more common in our series) is the most severe type of lipodystrophy. Thus, apart from cases reported here represent the most common clinical types, they also represent the most severe. Thus, these patients should present umbilical

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