Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms

• DOI: 10.2106/jbjs.cc.18.00132
• Publication Date: 2018-11-29T12:11:15Z
• Authors: Pedro Teixeira da...; Marta Maio; Rita Sapage; Carlos Branco; Carlos Pintado
• Keywords: Ulnar Neuropathy; Rare disease; Neurological examination

Case: A 13-year-old girl presented with paresthesia of the fourth and fifth fingers dorsal ulnar surface left hand that had started 3 months prior. Physical examination showed loss sensation at side a positive Froment sign. Electromyography severe motor conduction block in nerve elbow. Eighteen later, patient similar symptoms right hand. The diagnosis hereditary neuropathy liability to pressure palsies (HNPP) was considered confirmed genetic testing. Conclusion: HNPP is rare disease should be not only patients multiple compressive neuropathies, but also any unexpected or unexplained neuropathy, even if it isolated.