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| DOI | 10.1016/J.NMD.2019.02.005 | ||||
| Año | 2019 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch or birthing bar during labor. We present a patient who developed a severe bilateral palsy after playing in a dancing simulator machine. The patient's position during the game was a combination of wrist extension, elbow flexion, retroversion of arms and a degree of minor torsion of both upper limbs. This mechanism has not been reported as a cause of neuropathic damage. An underlying neuropathy was suspected, and most acquired causes of neuropathy were excluded. A sequence analysis showed a novel point mutation in NM_000304.3(PMP22):c.83G>A (p.Trp28Ter), an heterozygous pathogenic variant. Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disorder characterized by recurrent painless entrapment neuropathies; no case of bilateral simultaneous radial paralysis has been reported previously. (C) 2019 Elsevier B.V. All rights reserved.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Cea, Gabriel | Hombre |
Universidad de Chile - Chile
Hospital del Salvador - Chile Hosp Salvador - Chile |
| 2 | Contreras, Juan Pablo | Hombre |
Universidad de Chile - Chile
|
| 2 | Contreras, Juan Pablo | Hombre |
Universidad de Chile - Chile
|
| 3 | Aguilar, Shirley | Mujer |
Hospital del Salvador - Chile
Hosp Salvador - Chile |
| 4 | Vera, Julia | Mujer |
Universidad de Chile - Chile
|