Neuronal intranuclear inclusion disease (NIID) exhibits diverse clinical phenotypes caused by the intronic repeat expansion of NOTCH2NLC.^1,2 An acute encephalopathic episode can manifest in some patients with NIID.^3,4 Herein, we report an NIID patient harboring a de novo {(GGA)_n(GGC)_n}_n repeat expansion in NOTCH2NLC, who developed abrupt mitochondrial encephalomyopathy, lactic acidosis, and stroke-like (MELAS)-like episode in the 15-year course clinical diagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).

中文翻译：

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在慢性多发性神经病中表现为MELAS样发作的神经元核内包涵体疾病

神经元核内包涵体病（NIID）表现出由NOTCH2NLC的内含子重复扩增引起的多种临床表型。^1,2在一些NIID患者中可能出现急性脑病发作。^3,4在此，我们报道了一名NIID患者，其在NOTCH2NLC中出现了从头{{GGA）_n（GGC）_n } _n重复扩增，并在此期间发生了突然的线粒体脑病，乳酸性酸中毒和中风样（MELAS）发作15年病程临床诊断为慢性炎症性脱髓鞘性多发性神经病（CIDP）。