Dr. Niva

An Uncommon Disease with a Common Presentation: Severe Back pain and Diffuse Neuropathy in Two Cases of Hereditary Neuropathy with Liability to Pressure Palsy

Introduction: Hereditary Neuropathy with liability to Pressure Palsy (HNPP) is an autosomal dominant genetic disorder characterized by multiple episodes of focal weakness and sensory loss caused by compression or trauma. HNPP is rare disorder and often exhibits cranial nerve involvement, sensorineural deafness and scoliosis. Individuals diagnosed with this condition typically exhibit a primary deficit of a single nerve palsy that can result in numbness, paresthesias, or weakness.

Case Presentation: Two unrelated individuals with HNPP were evaluated with clinical, laboratory, electrophysiological and genetic testing. Case 1 was a 32-year-old man who presented with an episode of transient right arm weakness and severe back pain. Case 2 was a 46-year-old woman who presented with severe back pain and diffuse paresthesias, which was diagnosed as HNPP.

Discussion: These cases present common symptoms that are uncommon for the typical HNPP patient. This report serves to contribute new information to the body of evidence describing HNPP.

Conclusion: Although HNPP typically presents with transient compressive mononeuropathies, this study suggests that HNPP can present with various broad clinical presentations, including severe back pain. Neurologists need to broaden their spectrum of clinical presentations to help diagnose these rare conditions.

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