ABSTRACT
La enfermedad de Lafora es infrecuente; sin embargo, es una de las causas más comunes de epilepsia mioclónica progresiva. Presentamos el caso de una mujer de 19 años sin comorbilidades y pautas madurativas normales, que inició a los 8 años con convulsiones y que a partir de los 15 años agregó deterioro cognitivo progresivo. Fue internada en nuestra institución con diagnóstico de estatus epiléptico super refractario. Se diagnosticó enfermedad de Lafora, confirmada por la anatomía patológica, y posteriormente se realizó un test genético que informó una variante patogénica del gen EPM2A, que confirmó el diagnóstico. Presentamos una causa de epilepsia mioclónica progresiva, con un pronóstico ominoso y un tratamiento orientado a medidas paliativas, por lo que es importante analizar los diagnósticos diferenciales con otras entidades, a fin de establecer un pronóstico, ofrecer mejor calidad de vida, asistencia médica adecuada y brindar asesoría genética a los familiares.
Lafora's disease is infrequent. However, it is one of the most common causes of progressive myoclonus epilepsy. We present the case of a 19-year-old woman, without comorbidities and normal development that started at 8 years with seizures and that from 15 years, had progressive cognitive deterioration. She was admitted to our institution with a diagnosis of super refractory status epilepticus. The diagnosis of Lafora's disease was made through pathological anatomy, later a genetic test was performed that reported a pathogenic variant of the EPM2A gene, confirming the diagnosis. We present a cause of progressive myoclonic epilepsy, with an ominous prognosis and a treatment oriented to palliative measures, so it is important to analyze the differential diagnoses with other entities, in order to establish a prognosis, offer better quality of life, adequate medical care and provide genetic counseling to family members.
Subject(s)
Humans , Female , Young Adult , Myoclonic Epilepsies, Progressive/etiology , Lafora Disease/complications , Biopsy , Myoclonic Epilepsies, Progressive/genetics , Lafora Disease/genetics , Lafora Disease/pathology , Diagnosis, Differential , Electroencephalography , Protein Tyrosine Phosphatases, Non-Receptor , Mutation/geneticsABSTRACT
Skin biopsy is a powerful diagnostic tool in Dermatology. Its use has been extended to other medical specialties, aüowing the diagnosis of several diseases that previously required complex and high risk diagnostic procedures. Skin contains numerous cell types, including blood vessels and peripheral nerves and represents a window to the systemic circulation and nervous system. In this review we discuss the use of skin biopsy to diagnose nervous system diseases in which patients do not exhibit any clinical cutaneous manifestations. We review the usefulness of skin biopsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopaty (CADASIL), some lysosomal storage diseases, Lafora disease and in peripheral neuropathies.
Subject(s)
Humans , CADASIL , Skin/pathology , Biopsy/standards , Lafora Disease/pathology , Lysosomal Storage Diseases/pathology , Peripheral Nervous System Diseases/pathologyABSTRACT
A review of the main clinical, pathologic and genetic aspects of progressive myoclonus epilepsy Lafora type was undertaken. The diagnosed cases of this disorder in Costa Rica are mentioned.
Subject(s)
Humans , Lafora Disease/genetics , Lafora Disease/pathology , Costa RicaABSTRACT
Uma paciente de 16 anos apresentava epilepsia mioclônica causada pela doença de Lafora. A biopsia muscular mostrou padräo vacuolar nas fibras musculares com as reaçöes nicotinamida adenina tetrazolium redutase desidrogenase, hematoxilina-eosina e PAS. O aspecto morfológico permite o diagnóstico através da biopsia muscular. Este é um procedimento menos agressivo que a biopsia de fígado e de cérebro. A microscopia eletrônica deve ser reservada para casos nos quais as alteraçöes musculares à microscopia óptica säo muito discretas deixando dúvidas quanto ao diagnóstico
Subject(s)
Humans , Female , Adolescent , Lafora Disease/pathology , Muscles/pathology , Biopsy , Staining and Labeling/methodsABSTRACT
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