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Acta pediatr. esp ; 72(6): e202-e206, jun. 2014. tab
Article in Spanish | IBECS | ID: ibc-125844

ABSTRACT

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)


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)


Subject(s)
Humans , Male , Infant , Brachial Plexus Neuropathies/diagnosis , Hereditary Sensory and Motor Neuropathy/diagnosis , Early Diagnosis
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