Berardinelli-Seip syndrome and progressive myoclonus epilepsy

Domenico Serino, Chiara Davico, Nicola Specchio, Carlo Efisio Marras, Franco Fioretto

Research output: Contribution to journalArticle

Abstract

Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation. The patient had epilepsy onset at the age of two, characterized by monthly generalized tonic-clonic seizures. By the age of three, he presented with drug-resistant ongoing myoclonic absence seizures, photosensitivity, progressive neurological degeneration, and moderate cognitive delay. Molecular analysis of the BSCL2 gene yielded a homozygous c.(1076dupC) p.(Glu360*) mutation. Application of a vagus nerve stimulator led to temporary improvement in seizure frequency, general neurological condition, and EEG background activity. Specific BSCL2 mutations may lead to a peculiar CGL2 phenotype characterized by PME and progressive neurodegeneration. Application of a vagus nerve stimulator, rarely used for PMEs, may prove beneficial, if only temporarily, for both seizure frequency and general neurological condition.

Original languageEnglish
Pages (from-to)117-121
Number of pages5
JournalEpileptic Disorders
Volume21
Issue number1
DOIs
Publication statusPublished - Feb 1 2019

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Congenital Generalized Lipodystrophy
Progressive Myoclonic Epilepsy
Seizures
Vagus Nerve
Mutation
Electroencephalography
Acanthosis Nigricans
Absence Epilepsy
Nonsense Codon
Subcutaneous Fat
Dyslipidemias
Cardiomyopathies
Age of Onset
Insulin Resistance
Epilepsy
Phenotype
Liver
Pharmaceutical Preparations
Genes

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Berardinelli-Seip syndrome and progressive myoclonus epilepsy. / Serino, Domenico; Davico, Chiara; Specchio, Nicola; Marras, Carlo Efisio; Fioretto, Franco.

In: Epileptic Disorders, Vol. 21, No. 1, 01.02.2019, p. 117-121.

Research output: Contribution to journalArticle

Serino, Domenico ; Davico, Chiara ; Specchio, Nicola ; Marras, Carlo Efisio ; Fioretto, Franco. / Berardinelli-Seip syndrome and progressive myoclonus epilepsy. In: Epileptic Disorders. 2019 ; Vol. 21, No. 1. pp. 117-121.
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AB - Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation. The patient had epilepsy onset at the age of two, characterized by monthly generalized tonic-clonic seizures. By the age of three, he presented with drug-resistant ongoing myoclonic absence seizures, photosensitivity, progressive neurological degeneration, and moderate cognitive delay. Molecular analysis of the BSCL2 gene yielded a homozygous c.(1076dupC) p.(Glu360*) mutation. Application of a vagus nerve stimulator led to temporary improvement in seizure frequency, general neurological condition, and EEG background activity. Specific BSCL2 mutations may lead to a peculiar CGL2 phenotype characterized by PME and progressive neurodegeneration. Application of a vagus nerve stimulator, rarely used for PMEs, may prove beneficial, if only temporarily, for both seizure frequency and general neurological condition.

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