Revista chilena de neuro-psiquiatría
versión On-line ISSN 0717-9227
NUNEZ D, Carolina et al. Lafora epilepsy. Rev. chil. neuro-psiquiatr. [online]. 2008, vol.46, n.2, pp. 134-139. ISSN 0717-9227. http://dx.doi.org/10.4067/S0717-92272008000200008.
Clinically Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy (PME). It develops due to mutations in gene that encodes laforin or malin, which may be involved in regulating the glycogen metabolism. Pathognomonic Lafora bodies are composed by dense aggregates of polyglucosans inclusions, found in brain and other organs. We describe 18 year oldfemale withfamily history ofmyodonic epilepsy. She developed worsening myodonic seizures with correlative electroencephalogram abnormalities and a progressive mental deterioration. Diagnosis was confirmed with periodic acid-schiff (PAS) positive lafora bodies and ubiquitin-positive inmunohistochemical stain, which helped to distinguish from other PAS positive inclusions. This is the first case describe of Lafora disease in Chile.
Palabras clave : Myoclonus epilepsy; Lafora disease; ubiquitin.