Neuropatía hereditaria con predisposición a la parálisis por compresión: presentación de casos clínicos y electrofisiológicos / Hereditary neuropathy with liability to pressure palsies: presentation of clinical and electrophysiological cases
Rev. Hosp. Clin. Univ. Chile
;
20(3): 189-193, 2009. tab
Artigo
em Espanhol
| LILACS
| ID: lil-620970
ABSTRACT
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal dominant neuropathy characterized by recurrent episodes of painless multiple nerve entrapments. We present five cases of HNPP confirmed by clinical and electrophysiological studies. Genetic confirmation of the diagnosis was performed in only one of the cases, given the fact that there are no laboratories performing this test inChile. This emphasizes the importance of electrophysiological diagnostic suspicion and the need for electrophysiological studies in family members even when asymptomatic.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Neuropatia Hereditária Motora e Sensorial
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. Hosp. Clin. Univ. Chile
Assunto da revista:
Medicina
Ano de publicação:
2009
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Hospital Clínico Universidad de Chile/CL
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