Unusual Presentation of Lafora's Disease
| Autor: | Berge A. Minassian, William J. Logan, Suad F. Al Otaibi, Shelly K. Weiss, Cameron Ackerley |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Pathology
medicine.medical_specialty Adolescent Biopsy Disease Progressive myoclonus epilepsy 03 medical and health sciences 0302 clinical medicine 030225 pediatrics medicine Humans Dementia medicine.diagnostic_test Brain biopsy Brain medicine.disease Lafora Disease Lafora's disease Pediatrics Perinatology and Child Health Disease Progression Female Neurology (clinical) Presentation (obstetrics) Cognition Disorders Psychology 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 18:499-501 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/08830738030180070901 |
| Popis: | Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy. ( J Child Neurol 2003;18:499—501). |
| Databáze: | OpenAIRE |
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