EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review
| Autor: | Ellen Sidransky, Barbara K. Stubblefield, Nahid Tayebi, Raphael Schiffmann, Chelsie N. Poffenberger, Emory Ryan, Grisel Lopez, Sara K. Inati |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Endocrinology Diabetes and Metabolism Epilepsies Myoclonic Disease Progressive myoclonus epilepsy 030105 genetics & heredity Electroencephalography Nervous System Malformations Biochemistry Article Young Adult 03 medical and health sciences 0302 clinical medicine Endocrinology Seizures EEG abnormality Genetics Humans Medicine Ictal Child Molecular Biology Gaucher Disease medicine.diagnostic_test business.industry medicine.disease Natural history Phenotype Cohort Female business Glucocerebrosidase 030217 neurology & neurosurgery |
| Zdroj: | Mol Genet Metab |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2020.10.010 |
| Popis: | The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progressive myoclonic epilepsy. Electroencephalography (EEG) is a widely available tool used to identify abnormalities in cerebral function, as well as epileptiform abnormalities indicating an increased risk of seizures. We characterized the EEG findings in GD3, reviewing 67 patients with 293 EEGs collected over nearly 50 years. Over 93% of patients had some form of EEG abnormality, most consisting of background slowing (90%), followed by interictal epileptiform discharges (IEDs) (54%), and photoparoxysmal responses (25%). The seven patients without background slowing were all under age 14 (mean 6.7 years). There was a history of seizures in 37% of this cohort; only 30% of these had IEDs on EEG. Conversely, only 56% of patients with IEDs had a history of seizures. These observed EEG abnormalities document an important aspect of the natural history of GD3 and could potentially assist in identifying neurological involvement in a patient with subtle clinical findings. Additionally, this comprehensive description of longitudinal EEG data provides essential baseline data for understanding central nervous system involvement in neuronopathic GD. |
| Databáze: | OpenAIRE |
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