RESUMEN
Myoclonic epilepsy with ragged red fibers (MERRF), also called Fukuhara's disease, is sometimes accompanied by the rare symptom of multiple symmetric lipomatosis (MSL). MSL associated with MERRF has been reported mainly in Caucasians; such cases have not been reported in Japanese patients. We report the case of a 59-year-old Japanese woman with MERRF syndrome associated with A-->G substitution at nucleotide 8,344 of mtDNA. This case suggests that differences in lifestyle and gene polymorphism among races may be related to the prevalence of MSL due to mitochondrial abnormality, and that mitochondrial abnormalities should be considered as a cause of MSL even in Japanese patients.
Asunto(s)
Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/etiología , Síndrome MERRF/complicaciones , Síndrome MERRF/diagnóstico , ADN Mitocondrial/genética , Femenino , Humanos , Japón , Lipomatosis Simétrica Múltiple/etnología , Síndrome MERRF/etnología , Persona de Mediana Edad , Mitocondrias Musculares/patologíaRESUMEN
We report four cases of multiple symmetric lipomatosis in the Chinese population. We believe that multiple symmetric lipomatosis in the Chinese is not uncommon and may be related to the increasing incidence of alcoholism. The ultrasound appearances of these lipomatous masses are presented for the first time. Heterogeneous echogenic masses with fine fibrous strands that insinuate around fascial planes, lymph nodes and vascular tissues are typical findings. Unlike diseases affecting the Western population, multiple symmetric lipomatosis in the Chinese appears to be limited to the head and neck.
Asunto(s)
Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/etnología , Anciano , Alcoholismo/complicaciones , Hong Kong , Humanos , Lipomatosis Simétrica Múltiple/etiología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos XRESUMEN
Multiple symmetrical lipomatosis is a rare condition, of which the etiology remains unclear. Most reported cases have been from the Mediterranean countries, and it is generally thought of as a disorder characteristic of that region. However, there have been 11 cases reported in Japan since 1978, suggesting that this condition is no longer confined to Mediterranean countries.