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.
Highlights
Hereditary neuropathy with liability to pressure palsy (HNPP) is a sensitive motor neuropathy inherited in an autosomal dominant pattern whose anomaly consists of a deletion of the peripheral myelin protein 22 (PMP22) gene, located in the 17p11.2 chromosome region
We present a case of HNPP with clinical manifestations at an early age (4 months)
The HNPP usually manifests during adolescence and/or adulthood, being relatively exceptional at an earlier age [5,6,7,8,9,10]
Summary
Hereditary neuropathy with liability to pressure palsy (HNPP) is a sensitive motor neuropathy inherited in an autosomal dominant pattern whose anomaly consists of a deletion of the peripheral myelin protein 22 (PMP22) gene, located in the 17p11.2 chromosome region. We present a case of HNPP with clinical manifestations at an early age (4 months). As well as neurophysiological and molecular studies, stand out in early diagnostic suspicion.
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