Pathologic confirmation of Lafora disease

We read with great interest the article “Progressive, Fatal Neurological Decline in an Adolescent” by Jacobs et al [1] published in Pediatric Neurology in 2017. Lafora disease is a rare autosomal recessive progressive myoclonus epilepsy with onset classically on the second decade of life [2]. It occurs worldwide, but is more frequent in Mediterranean countries [3]. It presents with generalized seizures followed by myoclonus [4]. Cognitive decline develops rapidly and progresses to dementia [4].
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Correspondence Source Type: research