Semi-Late Onset and Rapidly Progressive Case of Lafora’s Disease with Predominant Cognitive Symptoms

Abstract

The authors report a sporadic case of Lafora’s disease, unusual for the comparatively late age at onset and atypical evolution. Discrete visual phenomena that may be considered as partial seizures occurred at age 19 years. A generalized tonic-clonic seizure occurred at 20 years of age and myoclonus became apparent a few weeks later. A massive cognitive dysfunction was clearly apparent 3 months after the first seizure and further mental deterioration occurred although seizures were controlled by medication and myoclonus remained minimal. The EEG showed the typical association of generalized and focal (occipital) changes. Axillar skin and muscle biopsies were positive and easily confirmed the diagnosis. The clinical presentation of Lafora’s disease is considered by the authors to be sufficient for a clinical diagnosis, even in such an atypical case. Confirmation by skin biopsy is easily obtainable.

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

“…One patient had onset of symptoms at 35 years and presented to us at 42 years of his age, which is very unusual. Late onset LBDs had been previously described in the literature [1,20]. Early in the course of illness they manifested with generalized seizures, which are refractory to anti-convulsants.…”

Progressive myoclonic epilepsy

“…Most often patients with LBD present at 13 or 14 years of age with few exceptions. [18] Death usually occurs within 10 years of onset. Seizures, myoclonus, or learning disability may be the first symptom in the majority.…”

Enfermedad de Lafora: revisión de la bibliografía

“…Los primeros síntomas se suelen reflejar en la caída del rendimiento académico, pero poco después el deterioro comienza a afectar de forma devastadora al resto de funciones, produciéndose disartria y afasia, apraxia, ataxia cerebelosa, disminución del tono muscular, espasticidad y ceguera cortical. En cuanto al funcionamiento cognitivo, los estudios coinciden en la observación de dificultades en atención y funciones ejecutivas [17][18][19][20][21] lenguaje [4,22,23], memoria [4,23] y agnosia visual [20]. Además del deterioro neurológico y cognitivo, es frecuente que aparezcan de manera temprana diferentes síntomas psiquiátricos como pueden ser alteraciones conductuales, depresión, apatía, confusión o sintomatología psicótica.…”