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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

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Abstract

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.

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Funding

The authors received no funding for this work. The work described has not been published before, and it is not under consideration for publication anywhere else.

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Authors and Affiliations

  1. Dipartimento di Medicina Molecolare e dello Sviluppo, Universita’ degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy

    Silvia Ferranti & Salvatore Grosso

  2. Genetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy

    Caterina Lo Rizzo & Alessandra Renieri

  3. Medical Genetics, University of Siena, viale Bracci 2, 53100, Siena, Italy

    Alessandra Renieri

  4. U.O.C. Neuroimmagini e Neurointerventistica (NINT), Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy

    Paolo Galluzzi

  5. U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy

    Salvatore Grosso

Authors
  1. Silvia Ferranti
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  2. Caterina Lo Rizzo
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  3. Alessandra Renieri
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  4. Paolo Galluzzi
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  5. Salvatore Grosso
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Corresponding author

Correspondence to Silvia Ferranti.

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The authors declare that they have no conflict of interest.

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Its publication has been approved by all co-authors, as well as by the responsible authorities at the institute where the work has been carried out.

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Informed consent was obtained from the patient’s parents.

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Ferranti, S., Lo Rizzo, C., Renieri, A. et al. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome. Neurol Sci 41, 3345–3348 (2020). https://doi.org/10.1007/s10072-020-04418-1

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  • DOI: https://doi.org/10.1007/s10072-020-04418-1

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