Abstract

Lafora disease constitutes one of the most common types of progressive myoclonic epilepsy in South Europe, especially in Spain. Its onset is between 10 and 18 years old, with myoclonus which can be segmentary, erratic, intentional and associated frequently with focal occipital seizures. There could also be primary or secondary generalized tonic-clonic seizures. A progressive dementia is evident as is the presence of intra citoplasmic inclusion bodies (Lafora bodies) in neurons and other glucose consuming body cells. The diagnosis can be done by identifying Lafora bodies in the sweat glands of the underarm skin. There are two genes fundamentally implicated in this disease: the EPM2A in 6q24 and the EPM2B in 6p22. We present, to our knowledge, the first documented case in Ecuador, diagnosed by histopathological material obtained by skin biopsy, and analyze its clinical, electroencephalographic and evolving characteristics.  Patient’s family tree is analyzed in detail and an exhaustive literature update related with this disease is performed.

Key words: Lafora disease, Myoclonic Eplepsy, Dementia.