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

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

Silvia Ferranti  1 , Caterina Lo Rizzo  2 , Alessandra Renieri  2   3 , Paolo Galluzzi  4 , Salvatore Grosso  5   6
Affiliations
Case Reports

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

Silvia Ferranti et al. Neurol Sci. 2020 Nov.

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.

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

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References

    1. Patni N, Garg A (2015) Congenital generalized lipodystrophies—new insights into metabolic dysfunction. Nat Rev Endocrinol 11(9):522–534. https://doi.org/10.1038/nrendo.2015.123 - DOI - PubMed
    1. Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F (2016) Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review. Seizure. 42:1–6. https://doi.org/10.1016/j.seizure.2016.08.008 - DOI - PubMed
    1. Lima JG, Nobrega LH, de Lima NN, do Nascimento Santos MG, Baracho MF, Jeronimo SM (2016) Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr 8:23. https://doi.org/10.1186/s13098-016-0140-x - DOI - PubMed - PMC
    1. Tseng CF, Ho CS, Chiu NC, Lin SP, Tzen CY, Wu YH (2009) Lafora disease and congenital generalized lipodystrophy: a case report. Kaohsiung J Med Sci 25(12):663–668. https://doi.org/10.1016/S1607-551X(09)70572-8 - DOI - PubMed
    1. Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D (2013) A new seipin-associated neurodegenerative syndrome. J Med Genet 50(6):401–409. https://doi.org/10.1136/jmedgenet-2013-101525 - DOI - PubMed

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