Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

Neurol Sci. 2020 Nov;41(11):3345-3348. doi: 10.1007/s10072-020-04418-1. Epub 2020 May 21.


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.

Keywords: Berardinelli-Seip syndrome; Congenital Generalized Lipodystrophy type 2; Progressive Myoclonic Epilepsy; Seipin.

Publication types

  • Case Reports

MeSH terms

  • Adipose Tissue
  • Adolescent
  • Child
  • GTP-Binding Protein gamma Subunits* / genetics
  • Humans
  • Lipodystrophy, Congenital Generalized* / complications
  • Lipodystrophy, Congenital Generalized* / diagnosis
  • Lipodystrophy, Congenital Generalized* / genetics
  • Myoclonic Epilepsies, Progressive* / genetics
  • Phenotype


  • BSCL2 protein, human
  • GTP-Binding Protein gamma Subunits