Berardinelli‐Seip syndrome and progressive myoclonus epilepsy
- 1 February 2019
- journal article
- research article
- Published by Wiley in Epileptic Disorders
- Vol. 21 (1), 117-121
- https://doi.org/10.1684/epd.2019.1038
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.Keywords
This publication has 4 references indexed in Scilit:
- Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature reviewSeizure, 2016
- Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative diseaseNeurobiology of Disease, 2015
- A new seipin-associated neurodegenerative syndromeJournal of Medical Genetics, 2013
- Lafora Disease and Congenital Generalized Lipodystrophy: A Case ReportThe Kaohsiung Journal of Medical Sciences, 2009