病理
医学
皮肤活检
高强度
肌肉活检
磁共振成像
活检
卡德西尔
基底神经节
桥
脑活检
腓肠神经
白质
解剖
痴呆
放射科
中枢神经系统
疾病
内分泌学
作者
Nishtha Yadav,Pritam Raja,Safal S Shetty,Saini Jitender,Chandrajit Prasad,Nitish Kamble,Anita Mahadevan,M Netravathi
出处
期刊:Alzheimer Disease & Associated Disorders
[Ovid Technologies (Wolters Kluwer)]
日期:2019-10-01
卷期号:33 (4): 359-361
被引量:15
标识
DOI:10.1097/wad.0000000000000312
摘要
Introduction: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder pathologically characterized by localized neuronal loss, and presence of eosinophilic intranuclear inclusions in neurons and glial cells. Case Report: A 50-year-old man presented with rapidly progressive dementia, behavioral changes, gait disturbances, and incontinence of 3 months duration. His brain magnetic resonance imaging showed diffuse T2/FLAIR hyperintensity of basal ganglia, thalami, cerebral peduncles, ventral pons, and supratentorial white matter with a frontal predominance. Hyperintensity was noted along the corticosubcortical junction on diffusion-weighted images. NIID was suspected and the patient underwent triple biopsy of the sural nerve with adjacent skin and biceps biopsy. Biopsy revealed ubiquitin-positive intranuclear inclusions surrounding the myofibers, and vascular smooth muscles suggestive of NIID. Conclusions: NIID is a rare neurodegenerative disorder usually diagnosed postmortem. The rectal and skin biopsy had proved helpful in antemortem diagnosis. We have increased the diagnostic armamentarium by showing the presence of intranuclear inclusions in smooth muscle cells of the muscle. Hence, a high degree of suspicion, magnetic resonance imaging features, with nerve/muscle/skin biopsy can help in diagnosis of NIID.
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