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.

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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
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article

Hereditary Neuropathy with Liability to Pressure Palsies Mimicking a Chronic Inflammatory Demyelinating Polyneuropathy Variant: A Case Report Highlighting Diagnostic Challenges

Yuki Hatanaka, Masaomi Yamamoto, Kenichi Kaida
Internal Medicine
Hereditary Neurological Disorders
article

Hereditary Neuropathy with Liability to Pressure Palsies Mimicking a Chronic Inflammatory Demyelinating Polyneuropathy Variant: A Case Report Highlighting Diagnostic Challenges

Yuki Hatanaka, Masaomi Yamamoto, Kenichi Kaida
article en

Abstract

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.

Internal Medicine
Social Insurance Saitama Chuo Hospital (JP), Saitama Medical University (JP), Teikyo University (JP)
Openalex Percentile: Top 69%
Hereditary Neurological Disorders
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Hereditary Neuropathy with Liability to Pressure Palsies Mimicking a Chronic Inflammatory Demyelinating Polyneuropathy Variant: A Case Report Highlighting Diagnostic Challenges — Yuki Hatanaka, Masaomi Yamamoto, et al. · Internal Medicine (2025) | TGRS Research Map | TGRS