Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
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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 1,5
Received: 13 October 2019 / Accepted: 13 April 2020 # Fondazione Società Italiana di Neurologia 2020
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
Introduction
Case report
Berardinelli-Seip syndrome or Congenital Generalized Lipodystrophy type 2 (CGL2) is a rare genetic disorder characterized by loss of subcutaneous tissue associated with peripheral insulin resistance and its complications [1]. Epilepsy was only occasionally observed [2].
We report the case of two sisters, 15 and 18 years old respectively, evaluated at our Clinic for epileptic seizures and movement disorders. Information was collected from patients’ histories. Family history was notable for an aunt in the father’s side who presented with a similar clinical picture and died at the age of 17. The two patients were born through vaginal delivery; both pregnancies were complicated by threatened abortion. Motor and cognitive developmental milestones were achieved on time, whereas language development was delayed. Their phenotype included coarse facial features, synophrys, bulbous nasal tip, large ear pinnae, wide mouth, long fingers and toes, and hypertrichosis. At the age of 5 years, the patients started to present with generalized epileptic seizures with a focal onset. In the following years, their neurological involvement progressively became more severe, including myoclonic seizures. These were initially represented by head retropulsion or upper limb jerks which resulted in the throwing of objects. With growth, myoclonia affecting the eyelids, head, tongue, trunk, and limbs became almost continuous, occurring both at rest and during voluntary movements. They were accompanied by
* Silvia Ferranti silvia.ferranti@hotma
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