Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men, mean age 49.2 ± 16.1) diagnosed with and treated as CIDP, in whom mutations or variants of unknown significance (VUS) in genes associated with hereditary neuropathies were reported. All underwent neurological and neurophysiological examination, eight also cerebrospinal fluid (CSF) analysis. In 4/9, nerve ultrasound and/or MR‐neurography were performed. All the patients complained of progressive upper or lower limbs sensory‐motor symptoms, with heterogeneous disease duration (1‐34 years, mean 8.6 ± 10.8). Neurophysiology showed demyelinating signs in seven patients, mixed findings with predominant axonal damage in two patients. Neuroimaging disclosed diffuse abnormalities at proximal and distal segments. Molecular screening showed PMP22 duplication in two patients, mutations in the MPZ, EGR2, and GJB1 genes were reported in each of the remaining patients. The two patients with mixed neurophysiological findings had p.Val30Met mutation in the transthyretin gene. Two patients had VUS in the MARS and HSPB1 genes. Four patients had partial response to immunomodulant therapies, and CSF and neurophysiological features suggesting an inflammatory condition concomitant with the hereditary neuropathy. Hereditary neuropathy may be misdiagnosed with CIDP. The most common pitfalls are CSF (high protein levels and oligoclonal bands), incorrect interpretation of neurophysiology, and transient benefit from therapies. Neuroimaging may be helpful in cases with atypical presentations or when severe axonal damage complicate the neurophysiological interpretation.

中文翻译：

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散发性遗传性神经病被误诊为慢性炎症性脱髓鞘性多发性神经根病：陷阱和危险信号。

遗传性神经病可能会被误诊为慢性炎症性脱髓鞘性多发性神经根神经病（CIDP）。正确的诊断对于避免不必要的治疗和获得遗传咨询至关重要。我们报告了9名被诊断为CIDP并被视为CIDP的患者（七名男性，平均年龄49.2±16.1），其中报告了与遗传性神经病相关的基因突变或未知意义（VUS）的变异。所有患者均接受了神经和神经生理学检查，同时还进行了八次脑脊液（CSF）分析。在4/9中，进行了神经超声和/或MR神经造影。所有患者主诉上肢或下肢进行性感觉运动症状，疾病持续时间不同（1-34年，平均8.6±10.8）。神经生理学显示有7位患者出现脱髓鞘迹象，两名患者的轴索损伤占主要特征。神经影像学检查发现近端和远端段弥漫性异常。分子筛查显示其余两名患者均报告了两名患者的PMP22复制，MPZ，EGR2和GJB1基因突变。两名神经生理学检查结果混合的患者在运甲状腺素蛋白基因中存在p.Val30Met突变。两名患者在MARS和HSPB1中有VUS基因。四名患者对免疫调节疗法有部分反应，脑脊液和神经生理学特征提示炎症性疾病与遗传性神经病同时发生。遗传性神经病可能会被CIDP误诊。最常见的陷阱是CSF（高蛋白水平和寡克隆带），对神经生理学的错误解释以及从治疗中获得的短暂收益。在影像学表现不典型或严重的轴突损伤使神经生理学解释复杂化的情况下，神经影像检查可能会有所帮助。