Bu Julia Ting, Torres Dolores, Robinson Adam, Malone Corey, Vera Juan Carlos, Daghighi Shadi, Dunn-Pirio Anastasie, Khoromi Suzan, Nowell Justin, Léger Gabriel C, Ciacci Joseph D, Goodwill Vanessa S, Estrella Melanie, Coughlin David G, Guo Yueyang, Farid Nikdokht
Department of Neurosciences, University of California, San Diego, La Jolla, CA, United States.
Department of Radiology, University of California, San Diego, La Jolla, CA, United States.
Front Neurol. 2023 Jun 2;14:1184612. doi: 10.3389/fneur.2023.1184612. eCollection 2023.
Neuronal intranuclear inclusion disease (NIID), a neurodegenerative disease previously thought to be rare, is increasingly recognized despite heterogeneous clinical presentations. NIID is pathologically characterized by ubiquitin and p-62 positive intranuclear eosinophilic inclusions that affect multiple organ systems, including the brain, skin, and other tissues. Although the diagnosis of NIID is challenging due to phenotypic heterogeneity, a greater understanding of the clinical and imaging presentations can improve accurate and early diagnosis. Here, we present three cases of pathologically proven adult-onset NIID, all presenting with episodes of acute encephalopathy with protracted workups and lengthy time between symptom onset and diagnosis. Case 1 highlights challenges in the diagnosis of NIID when MRI does not reveal classic abnormalities and provides a striking example of hyperperfusion in the setting of acute encephalopathy, as well as unique pathology with neuronal central chromatolysis, which has not been previously described. Case 2 highlights the progression of MRI findings associated with multiple NIID-related encephalopathic episodes over an extended time period, as well as the utility of skin biopsy for antemortem diagnosis.
神经元核内包涵体病（NIID）是一种先前被认为罕见的神经退行性疾病，尽管临床表现各异，但目前越来越受到关注。NIID的病理特征是泛素和p-62阳性的核内嗜酸性包涵体，可累及多个器官系统，包括大脑、皮肤和其他组织。尽管由于表型异质性，NIID的诊断具有挑战性，但对临床和影像学表现的更深入了解有助于提高准确的早期诊断。在此，我们报告3例经病理证实的成人起病的NIID病例，所有病例均表现为急性脑病发作，检查过程漫长，症状出现与诊断之间间隔时间较长。病例1强调了MRI未显示典型异常时NIID诊断的挑战，并提供了急性脑病背景下脑血流灌注增加的显著例子，以及具有神经元中央性染色质溶解的独特病理表现，此前尚未见报道。病例2强调了在较长时间段内与多次NIID相关的脑病发作相关的MRI表现的进展，以及皮肤活检在生前诊断中的作用。
