【摘要】 目的:初步探讨我国成人型神经元核内包涵体病患者的临床和病理特点。方法:收集患者临床资料,对2例成人型神经元核内包涵体病患者的皮肤组织病理和超微结构进行观察。结果:较重的1例患者以反复意识障碍,痴呆,伴发热、呕吐为主要表现,较轻的患者以头晕伴恶心、呕吐起病。例1的皮肤组织病理结果可见汗腺细胞核内嗜酸性包涵体;例2的皮肤组织电镜下可见成纤维细胞核内包涵体结构。结论:成人型神经元核内包涵体病患者临床表现存在异质性,皮肤活检结合头颅核磁弥散像(DWI)皮髓质交界高信号有助于该病的诊断。发作性消化道症状可能是我国患者的主要临床表现之一。更多还原

【Abstract】 Objective:To investigate the clinical and neuropathological features of adult-onset neuronal intranuclear inclusion disease(NIID).Methods:Clinical data of patients were collected. Biopsied skin specimens from two patients with NIID were observed using enzymatic histochemical method and electron microscope.Results:One patient presented with episodic unconsciousness,cognitive impairment,fever and paroxysmal vomiting,whose skin biopsy revealed eosinophilic intranuclear inclusions in sweat gland cells.The other one with milder symptoms complained about dizziness and paroxysmal vomiting,and intranuclear inclusion bodies were observed in fibroblasts on her specimen.Conclusion:Adult-onset NIID has been considered to be a heterogeneous disease because of the highly variable clinical manifestations.Intranuclear inclusion bodies and high-intensity signal along the corticomedullary junction on diffusion weighted imaging(DWI)of MRI contribute to the diagnosis of adult-onset NIID.Paroxysmal digestive tract symptoms might be one of the main clinical manifestations in Chinese patients.更多还原