Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show secondary inflammatory features, and that subacute CIDP presentations may closely mimic the disease course of inherited disorders. The overlap between genetic neuropathies and CIDP is increasingly recognized in adults but rarely reported in children. Here we report 4 children with a neuropathy of subacute onset, initially considered consistent with an immune-mediated neuropathy based on suggestive clinical, laboratory and neurophysiological features. None showed convincing response to intravenous immunoglobulin therapy, leading to re-evaluation and confirmation of a genetic neuropathy in each case (including PMP22, MPZ and SH3TC2 genes). A review of the few Paediatric cases reported in the literature showed similar delays in diagnosis and no significant changes to immunomodulatory treatment. Our findings emphasize the importance of considering an inherited neuropathy in children with a CIDP-like presentation. In addition to an inconclusive response to treatment, subtle details of the family and developmental history may indicate a genetic rather than an acquired background. Correct diagnostic confirmation of a genetic neuropathy in a child is crucial for appropriate management, prognostication and genetic counselling.

中文翻译：

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遗传性神经病在儿童期表现为 CIDP 样特征

遗传性神经病是最常见的神经肌肉疾病之一。与慢性炎症性脱髓鞘性多发性神经病 (CIDP) 的区别可能具有挑战性，考虑到其在儿童期很罕见，遗传性神经病可能显示继发性炎症特征，并且亚急性 CIDP 表现可能与遗传性疾病的病程非常相似。遗传性神经病和 CIDP 之间的重叠在成人中越来越得到认可，但在儿童中很少报道。在这里，我们报告了 4 名儿童患有亚急性发作的神经病，最初被认为符合基于提示性临床、实验室和神经生理学特征的免疫介导的神经病。对静脉注射免疫球蛋白治疗没有显示出令人信服的反应，导致重新评估和确认每种情况下的遗传性神经病变（包括 PMP22、MPZ 和 SH3TC2 基因）。对文献中报道的少数儿科病例的回顾表明，诊断有类似的延迟，免疫调节治疗也没有显着变化。我们的研究结果强调了在具有 CIDP 样表现的儿童中考虑遗传性神经病变的重要性。除了对治疗的不确定反应外，家庭和发育史的微妙细节可能表明遗传而不是后天背景。对儿童遗传性神经病的正确诊断确认对于适当的管理、预测和遗传咨询至关重要。对文献中报道的少数儿科病例的回顾表明，诊断有类似的延迟，免疫调节治疗也没有显着变化。我们的研究结果强调了在具有 CIDP 样表现的儿童中考虑遗传性神经病变的重要性。除了对治疗的不确定反应外，家庭和发育史的微妙细节可能表明遗传而不是后天背景。对儿童遗传性神经病的正确诊断确认对于适当的管理、预测和遗传咨询至关重要。对文献中报道的少数儿科病例的回顾表明，诊断有类似的延迟，免疫调节治疗也没有显着变化。我们的研究结果强调了在具有 CIDP 样表现的儿童中考虑遗传性神经病变的重要性。除了对治疗的不确定反应外，家庭和发育史的微妙细节可能表明遗传而不是后天背景。对儿童遗传性神经病的正确诊断确认对于适当的管理、预测和遗传咨询至关重要。家庭和发展史的微妙细节可能表明遗传而不是后天背景。对儿童遗传性神经病的正确诊断确认对于适当的管理、预测和遗传咨询至关重要。家庭和发展史的微妙细节可能表明遗传而不是后天背景。对儿童遗传性神经病的正确诊断确认对于适当的管理、预测和遗传咨询至关重要。