Neuronal intranuclear inclusion disease with the main manifestations of tremor and disturbance of consciousness： A case report and literature review
10.19845/j.cnki.zfysjjbzz.2025.0034
- VernacularTitle:以震颤及意识障碍为主要表现的神经元核内包涵体病1例报告并文献复习
- Author:
Jiahua LU
1
;
Qingxia KONG
2
Author Information
1. 济宁医学院临床医学院，山东 济宁 272000
2. 济宁医学院附属医院神经内科，山东 济宁 272000
- Publication Type:Journal Article
- Keywords:
Neuronal intranuclear inclusion disease;
Hyperintensity on diffusion-weighted imaging;
NOTCH2NLC gene;
Skin biopsy;
Genetic testing
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(2):174-177
- CountryChina
- Language:Chinese
-
Abstract:
Case data were collected from an adult patient with sporadic neuronal intranuclear inclusion disease who were diagnosed in Affiliated Hospital of Jining Medical University. The patient was an elderly woman aged 64 years， with the main clinical manifestations of limb tremor and paroxysmal disturbance of consciousness. Skin biopsy of the patient showed the presence of eosinophilic inclusion bodies， head MRI diffusion sequences showed abnormal hyperintensity signals in the corticomedullary junction area， and genetic testing showed pathogenic genes NOTCH2NLC positive. The patient was diagnosed with neuronal intranuclear inclusion disease and was given symptomatic treatment. This case report suggests that for patients with limb tremor or paroxysmal disturbance of consciousness， if MRI diffusion sequences show abnormal hyperintensity signals in the corticomedullary junction area， the possibility of this disease should be considered， and skin biopsy and genetic testing should be performed to make a confirmed diagnosis， in order to provide early treatment.
