John Libbey Eurotext

Berardinelli-Seip syndrome and progressive myoclonus epilepsy Volume 21, numéro 1, February 2019


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1 Child Neurology and Psychiatry Unit, “Regina Montis Regalis” Hospital, Mondovì
2 Child Neurology and Psychiatry Unit, “Regina Margherita” Pediatric Hospital, Turin
3 Child Neurology Unit, “Bambino Gesù” Pediatric Hospital, Rome
4 Child Neurosurgery Unit, “Bambino Gesù” Pediatric Hospital, Rome, Italy
* Correspondence: Domenico Serino Child Neurology and Psychiatry Unit, “Regina Montis Regalis” Hospital, Via S. Rocchetto, 99, 12084 Mondovì, Italy

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.