Resumo

DIAZ NEGRILLO, Antonio. Hereditary neuropathy with liability to pressure palsy. Clinical, neurophysiological and genetic study of 3 sporadic cases. Acta Neurol Colomb. [online]. 2014, vol.30, n.4, pp.322-330. ISSN 0120-8748.

Introduction. Hereditary neuropathy with liability to pressure palsy (HNPP) is a genetic disease that primarily affects the myelin of peripheral nerves. This study aims to describe in detail three cases with no familiar blood-ties and do an updated literature review on the topic. Clinical cases. 23, 42 and 41 years old patients studied for suspected ulnar neuropathy (cases 1 and 2) and bilateral carpal tunnel (case 3) syndrome. Results. The electromyographic examination revealed the existence of a sensory-motor demyelinating polyneuropathy of greater intensity in locations susceptible to nerve entrapment. The genetic study confirmed in all patients the existence of a deletion at the level of PMP22 gene (chromosome 17p11.2). Conclusions. This hereditary neuropathy can simulate a simple compressive neuropathy. Therefore it is underdiagnosed. A thorough anamnesis and a rigorous neurophysiological study are essential in a proper diagnostic orientation.

Palavras-chave : Pressure Palsy; Hereditary Neuropathy; Tomacular Neuropathy; Polineuropathy; Demyelination; Electromyography.

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