Plexopatía braquial unilateral en un lactante como manifestación precoz de una neuropatía hereditaria con parálisis sensible a la presión / Brachial plexopathy as early manifestation of hereditary neuropathy with liability to pressure palsy in infancy
Acta pediatr. esp
; 72(6): e202-e206, jun. 2014. tab
Article
em Es
| IBECS
| ID: ibc-125844
Biblioteca responsável:
ES1.1
Localização: BNCS
RESUMEN
La neuropatía hereditaria con parálisis sensible a la presión (NHPP) suele manifestarse en la adolescencia y/o edad adulta, y es relativamente excepcional en edades más tempranas. Se presenta un caso de plexopatía braquial unilateral en un lactante de 4 meses de edad como manifestación precoz de NHPP, y se destaca la importancia de los datos anamnésicos familiares junto con el estudio neurofisiológico y molecular en la sospecha diagnóstica precoz (AU)
ABSTRACT
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by recurrent mono-neuropathies related to minimal trauma o compression. HNPP usually manifests in adolescence or adulthood, being relatively exceptional at an earlier age. A 4-month-old boy with brachial plexopathy as early manifestation of HNPP is presented. Familiar anamnesis, as well as neurophysiological and molecular studies, stands out in early diagnostic suspicion. In this case, the early manifestation and its semiological characteristics accentuate its peculiarity (AU)
Texto completo:
1
Coleções:
06-national
/
ES
Base de dados:
IBECS
Assunto principal:
Neuropatia Hereditária Motora e Sensorial
/
Neuropatias do Plexo Braquial
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
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Infant
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Male
Idioma:
Es
Revista:
Acta pediatr. esp
Ano de publicação:
2014
Tipo de documento:
Article