Neuronal intranuclear inclusion disease presented with stroke-like onset: a case report
10.3760/cma.j.cn113694-20230824-00076
- VernacularTitle:以卒中样发作为主要表现的神经元核内包涵体病1例
- Author:
Huifen WANG
1
;
Guanxi LI
;
Xiaomin PANG
;
Juan WANG
;
Rongjuan ZHAO
;
Xueli CHANG
;
Junhong GUO
;
Wei ZHANG
Author Information
1. 山西医科大学第一医院神经内科，太原 030001
- Keywords:
Stroke;
Transient ischemic attack;
Neuronal intranuclear inclusion disease;
NOTCH2NLC gene
- From:
Chinese Journal of Neurology
2023;56(12):1414-1418
- CountryChina
- Language:Chinese
-
Abstract:
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, characterized by eosinophilic transparent inclusions in the central and peripheral nervous systems, and internal organs. NIID clinical characteristics are varied, including cognitive impairment, muscle weakness, episodic symptoms, movement disorders and autonomic dysfunction. This article reports a patient with NIID who manifested with episodes of aphasia, dysgraphia and dyslexia without fever, headache, nausea and vomiting confirmed by genetic testing. The patient was a 62-year-old female with acute onset who was diagnosed with transient ischemic attack. This article aims to improve the knowledge of NIID with stroke-like onset by this case presentation and avoid misdiagnosis.
