An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is a genetic condition in which individuals develop recurrent nerve palsies due to nerve injury at susceptible anatomic sites. Because of its rarity, other diseases usually appear high in the differential list when the clinical presentation is suggestive. Here, we describe a case of HNPP initially thought of as radiculopathy and focal chronic inflammatory demyelinating polyneuropathy (CIDP). Only on close clinical examination, supportive electrodiagnostic tests, and recurrence with typical history, a diagnosis of HNPP was suspected and later confirmed by a genetic test.

Keywords: atypical cidp; chronic inflammatory demyelinating polyneuropathy (cidp); hereditary neuropathy with liability to pressure palsy (hnpp)); multifocal acquired demyelinating sensory and motor neuropathy (madsam); neuropathy.