Clinical features and imaging manifestations in 10 patients with genetically diagnosed adult-onset neuronal intranuclear inclusion disease
10.3760/cma.j.cn115354-20220415-00235
- VernacularTitle:基因确诊的10例成人型神经元核内包涵体病患者的临床及影像学特点分析
- Author:
Yuanyuan LIU
1
;
Wei JIN
;
Di ZHAO
;
Weizhou ZANG
;
Jiewen ZHANG
;
Shujian LI
Author Information
1. 河南省人民医院，郑州大学人民医院神经内科，郑州 450003
- Keywords:
Neuronal intranuclear inclusion disease;
Adult;
NOTCH2NLC gene;
Episodic symptom
- From:
Chinese Journal of Neuromedicine
2022;21(7):664-670
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical and imaging features of 10 patients with genetically diagnosed neuronal intranuclear inclusion disease (NIID) to avoid clinical misdiagnosis and mismanagement of NIID.Methods:Ten patients with NIID, admitted to our hospital from January 2020 to March 2022, were chosen in our study. All patients were confirmed as having NIID by NOTCH2NLC gene assay. Their clinical data, gene detection results and skin pathological results were collected and anlyzed. Results:These patients aged from 57 to 84 years, including 8 females. The episodic symptoms as main symptoms were noted in 6 patients, including 3 patients with encephalopathy, 1 patient with TGA, 1 patient with stroke-like episode, and 1 patient with migraine-like symptoms. Chronic progressive symptoms as main symptoms were noted in 4 patients, including 3 patients with dementia and 1 patient with Parkinson's disease. There were characteristic linear hyper-intensities in diffusion weighted imaging (DWI) in the corticomedullary junction predominantly in the frontal lobes. White matter lesions appeared in T2 Flair might have been noted years before lesions appeared in DWI, with wider ranges. All had GGC repeated expansion in NOTCH2NLC gene in non-coding area, with mutation number>60. Skin biopsy was performed in 6 patients, showing the formation of intranuclear inclusion bodies in different cells; and ubiquitin and P62 were found positive in immunohistochemical staining. Conclusions:NIID patients have large clinical heterogeneity; most patients have episodic symptoms as main manifestations, often accompanied by chronic progressive symptoms; stroke attack and migraine are rare clinical phenotypes of NIID. The high signal at the cortical medullary junction in DWI is a characteristic imaging change.
