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PMID: 41062314 已发表 · ppublish 英语

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

Internal medicine (Tokyo, Japan) ·第 65 卷 ·第 9 期 ·2026-05-01

Yamamoto M, Hatanaka Y, Kaida K

摘要

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.

关键词
PMP22 gene chronic inflammatory demyelinating polyneuropathy hereditary neuropathy with liability to pressure palsies
文献信息
期刊
Internal medicine (Tokyo, Japan)
期刊简称
Intern Med
ISSN
1349-7235
发表日期
2026-05-01
语言
英语
国家/地区
Japan
NLM ID
9204241
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