Neuropatía hereditaria con susceptibilidad a la parálisis por presión. Importancia del protocolo electrodiagnóstico
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| Format: | Artículo científico |
| Language: | es |
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Sociedad de Neurología, Psiquiatría y Neurocirugía de Chile
2012
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| _version_ | 1876484457412689920 |
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| author | Antonio Díaz Negrillo |
| author_facet | Antonio Díaz Negrillo |
| contents | Neuropatía hereditaria con susceptibilidad a la parálisis por presión. Importancia del protocolo electrodiagnóstico Antonio Díaz Negrillo Medicina Pressure palsies Electromyography Tomacular neuropathy Introduction: Hereditary neuropathy with susceptibility to pressure palsy is a genetic disorder of autosomal dominant inheritance that affects mainly the peripheral nerve myelin. This work aims to give a detailed description of a peculiar case and a literature review. Method: Neurophysiological and genetic study of 21 years old patient referred to the Clinical Neurophysiology Unit, by paresthesia in the right ulnar nerve territory. Results: Electromyographic examination demonstrated the existence of a sensory-motor polineuropathy greater intensity in multiple locations susceptible to nerve entrapment and genetic study confirmed the existence of a deletion at the PMP22 gene (chromosome 17p11.2). Conclusions: Hereditary neuropathy with susceptibility to pressure palsy is an underdiagnosed disease that may go unnoticed by simulating a simple compressive neuropathy. A rigorous neurophysiological study is essential to carry out a suspected diagnosis and to guide subsequent genetic diagnosis. 2012 artículo científico 0034-7388 https://www.redalyc.org/articulo.oa?id=331527731007 es http://www.redalyc.org/revista.oa?id=3315 Revista Chilena de Neuropsiquiatría application/pdf Sociedad de Neurología, Psiquiatría y Neurocirugía de Chile Revista Chilena de Neuropsiquiatría (Chile) Num.3 Vol.50 |
| format | Artículo científico |
| id | redalyc_331527731007 |
| institution | Redalyc |
| language | es |
| publishDate | 2012 |
| publisher | Sociedad de Neurología, Psiquiatría y Neurocirugía de Chile |
| spellingShingle | Neuropatía hereditaria con susceptibilidad a la parálisis por presión. Importancia del protocolo electrodiagnóstico Antonio Díaz Negrillo Medicina Pressure palsies Electromyography Tomacular neuropathy Neuropatía hereditaria con susceptibilidad a la parálisis por presión. Importancia del protocolo electrodiagnóstico Antonio Díaz Negrillo Medicina Pressure palsies Electromyography Tomacular neuropathy Introduction: Hereditary neuropathy with susceptibility to pressure palsy is a genetic disorder of autosomal dominant inheritance that affects mainly the peripheral nerve myelin. This work aims to give a detailed description of a peculiar case and a literature review. Method: Neurophysiological and genetic study of 21 years old patient referred to the Clinical Neurophysiology Unit, by paresthesia in the right ulnar nerve territory. Results: Electromyographic examination demonstrated the existence of a sensory-motor polineuropathy greater intensity in multiple locations susceptible to nerve entrapment and genetic study confirmed the existence of a deletion at the PMP22 gene (chromosome 17p11.2). Conclusions: Hereditary neuropathy with susceptibility to pressure palsy is an underdiagnosed disease that may go unnoticed by simulating a simple compressive neuropathy. A rigorous neurophysiological study is essential to carry out a suspected diagnosis and to guide subsequent genetic diagnosis. 2012 artículo científico 0034-7388 https://www.redalyc.org/articulo.oa?id=331527731007 es http://www.redalyc.org/revista.oa?id=3315 Revista Chilena de Neuropsiquiatría application/pdf Sociedad de Neurología, Psiquiatría y Neurocirugía de Chile Revista Chilena de Neuropsiquiatría (Chile) Num.3 Vol.50 |
| title | Neuropatía hereditaria con susceptibilidad a la parálisis por presión. Importancia del protocolo electrodiagnóstico |
| topic | Medicina Pressure palsies Electromyography Tomacular neuropathy |
| url | https://www.redalyc.org/articulo.oa?id=331527731007 |