Hereditary Neuropathy with Liability to Pressure Palsies Mimicking a Chronic Inflammatory Demyelinating Polyneuropathy Variant: A Case Report Highlighting Diagnostic Challenges
We herein report a case of chronic inflammatory demyelinating polyneuropathy (CIDP) that was ultimately identified as hereditary neuropathy with liability to pressure palsies (HNPP) based on PMP22 gene testing. The patient exhibited gradually progressive relapsing-remitting sensorimotor symptoms without obvious nerve compression episodes and received immunotherapy for CIDP for one year without improvement. This case highlights the clinical and electrophysiological challenges of differentiating long-standing HNPP from CIDP. In refractory CIDP cases with bilateral foot drop and immunotherapy resistance, HNPP should be considered and genetic testing performed, even in the absence of a family history.
Authors
- Yuki Hatanaka (ORCID: https://orcid.org/0000-0003-3365-8506)
- Masaomi Yamamoto
- Kenichi Kaida (ORCID: https://orcid.org/0000-0002-8039-7233)
Institutions
- Social Insurance Saitama Chuo Hospital (JP)
- Saitama Medical University (JP)
- Teikyo University (JP)
Publication Details
- Journal
- Internal Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.2169/internalmedicine.5771-25
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00