Epilepsia de Lafora / Lafora epilepsy

Clinically Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy (PME). It develops due to mutations in gene that encodes laforin or malin, which may be involved in regulating the glycogen metabolism. Pathognomonic Lafora bodies are composed by dense aggregates of polyglucosans inclusions, found in brain and other organs. We describe 18 year old female with family history of myodonic epilepsy. She developed worsening myodonic seizures with correlative electroencephalogram abnormalities and a progressive mental deterioration. Diagnosis was confirmed with periodic acid-schiff (PAS) positive lafora bodies and ubiquitin-positive inmunohistochemical stain, which helped to distinguish from other PAS positive inclusions. This is the first case describe of Lafora disease in Chile.

Clínicamente, la enfermedad de Lafora es una forma de epilepsia mioclónica progresiva, autosómica recesiva. Se desarrolla debido a la mutación del gen que codifica para la laforina y/o la malina, las cuales están involucradas en la regulación del metabolismo del glicógeno. Los corpúsculos de Lafora que identifican la enfermedad están compuestos por agregados densos de poliglicano que se encuentran en inclusiones tanto en el cerebro, como en otros tejidos. Describimos una mujer de 18 años con una historia familiar de epilepsia mioclónica; ella desarrolló crisis mioclónicas que se correlacionaban con anormalidades electroencefalográficas, que empeoraron progresivamente, asociadas a un deterioro cognitivo. El diagnóstico fue confirmado con la presencia de corpúsculos de Lafora encontrados en las glándulas sudoríparas de una biopsia de piel, con tinciones de PAS e inmunohistoquímicas positivos para ubiquitina, lo que permitió distinguir estos corpúsculos de otras inclusiones PAS positivas. Este es el primer caso descrito de enfermedad de Lafora en Chile.

Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical / Lafora disease and founder effect in a small neotropical locality

The Lafora disease is an uncommon genetic condition. Four cases (two families) were detected in Zarcero, a small town in Costa Rica (population under 2000). They belonged to two separate consanguineous marriages but both families had common ancestors. The diagnosis of Lafora disease was confirmed by liver and biopsy in one of the patients. The ages of onset were 13, 14, 16 and 17 years. Patients died after four, nine, six and five year of severe progressive physical and mental deterioration, respectively. The gene for Lafora disease arrive to Zarcero from one of its founders. There are no other cases reported from Costa Rica : this is an example of genetic drift, or more specifically, founder effect. Key words: Lafora disease, myoclonic epilepsy, founder effect

Doença de Lafora e distúrbios do movimento: relato de dois casos / Lafora's disease and movement disorders: report of 2 cases

Relatamos dois casos de doença de Lafora que apresentaram distúrbios do movimento, ataxia cerebelar, disartria e fenômeno do "susto exagerado", como manifestaçoes clínicas iniciais. Estes sintomas precederam as convulsoes, mioclonias e a demência progressiva. O diagnóstico foi confirmado pela identificaçao de corpos de inclusao, PAS positivo, na biópsia de pele de ambos os casos. Os pacientes relatados apresentam uma progressao lenta da doença, o que é incomum, com longa sobrevida. A doença de Lafora deve sempre ser incluída entre as causas de ataxia lentamente progressiva associada com epilepsia