INTRODUCTION Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Molecular analysis identified an autosomal recessive c.1048C > t;(p(Arg350*)) pathogenic mutation of exon 8 of the BSCL2 gene, which was present in a homozygous state in both patients. CONCLUSIONS Our paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.

中文翻译：

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专注于Berardinelli-Seip综合征的进行性肌阵挛性癫痫。

引言Berardinelli-Seip综合征或2型先天性广义脂肪营养不良是一种罕见的遗传病，其特征是与周围胰岛素抵抗及其并发症相关的皮下脂肪组织选择性丢失。通常会出现非进行性智力低下，肌张力障碍，共济失调和金字塔形体征，而癫痫病仅偶尔出现。病例报告我们报告了分别为11岁和18岁的两个姐妹的临床表型，该表型与Berardinelli-Seip综合征和进行性肌阵挛性癫痫兼容。分子分析确定了BSCL2基因第8外显子的常染色体隐性隐性c.1048C> t;（p（Arg350 *））致病突变，在两名患者中均以纯合状态存在。