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 in Chile. This emphasizes the importance of electrophysiological diagnostic suspicion and the need for electrophysiological studies in family members even when asymptomatic.
Palabras clave:
Neuropatía Hereditaria Motora y Sensorial/diagnóstico, Neuropatía Hereditaria Motora y Sensorial/genética, Malformaciones del Sistema Nervioso
Hughes G., R. ., & Bevilacqua, J. A. . (2009). Neuropatía hereditaria con predisposición a la parálisis por compresión. Presentación de casos clínicos y electrofisiológicos. Revista Hospital Clínico Universidad De Chile, 20(3), pp. 289–93. https://doi.org/10.5354/2735-7996.2009.76328
