To present the first case of Lafora Progressive Myoclonus Epilepsy diagnosed in El Salvador, where the disease had not been reported before.

Lafora disease also called Lafora Progressive Myoclonus Epilepsy is a very rare, autosomal recessive disease with fatal outcome. The onset occurs in childhood or in pre-adolescence, presenting with visual seizures, absence, myoclonus, tonic-clonic seizures, frequent status epilepticus, neurologic deterioration, dementia, progressive ataxia and death.  

The phenotype of a 15-year old female patient from San Miguel, El Salvador, was studied after she presented with three episodes of status epilepticus with massive myoclonias. As suggested by the Awareness Campaign by the Lafora Epilepsy Cure Initiative (LECI), confirmatory tests were indicated. 

Seizure onset in this case was 14 years old. Initially, the patient reported seeing blue lights followed by generalized jerks, which generalized with tonic-clonic seizures. Later, the epilepsy became refractory, showing mild cognitive and speech deficits. Symptoms persisted after treatment with valproic acid and phenytoin, and improved after adding levetiracetam. The eurological exam did not show motor or cerebellar abnormalities. Her 26-year-old sister had a similar clinical course, starting when she was 15 y/o, developing progressive deterioration becoming wheelchair bound. Both parents were normal, but three paternal uncles died from a similar disease. The EEG showed slow background, generalized spike-wave and poly-spike wave complexes. The brain MRI was normal. The skin biopsy showed inclusion bodies characteristic of Lafora Disease. Genetic testing is in process for the family.

According to our knowledge and literature review, this is the first case of Lafora Disease diagnosed in El Salvador. We suspected the diagnosis after exposed to the newly launched Awareness Campaign of the Lafora Epilepsy Cure Initiative.

Funding: Hospital de Especialidades Nuestra Señora Reina de la Paz, UNITEC-Honduras, Chapman University and UCLA.