Lafora disease is an autosomal recessive progressive myoclonic epilepsy characterized by refractory generalized tonic-clonic seizures, persistent myoclonus, severe and progressive cognitive decline, and a fatal course. We present the first genetically confirmed case in Ecuador. A 17-year-old male developed generalized tonic-clonic seizures at age 13, refractory to combined pharmacological treatment. He exhibited severe and progressive cognitive decline, significant neuropsychological regression, and an IQ of 32. The electroencephalogram (EEG) showed generalized epileptiform activity compatible with progressive myoclonic epilepsy. Genetic testing confirmed a mutation in the NHLRC1 gene. A ketogenic diet was initiated as a complementary therapeutic approach. This case highlights the importance of early genetic diagnosis and a comprehensive multidisciplinary management strategy.

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