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Revista chilena de neuro-psiquiatría

versão On-line ISSN 0717-9227

Resumo

DIAZ NEGRILLO, Antonio. Hereditary neuropathy with liability to pressure palsies: Importance of electrodiagnostic protocol. Rev. chil. neuro-psiquiatr. [online]. 2012, vol.50, n.3, pp.174-180. ISSN 0717-9227.  http://dx.doi.org/10.4067/S0717-92272012000300007.

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.

Palavras-chave : Pressure palsies; Tomacular neuropathy; Electromyography.

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