A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy

被引：12

作者：

Pilson, Keith ^{[1
]}

Farrell, Michael ^{[2
]}

Lynch, Beyan ^{[3
]}

Devaney, Deirdre ^{[1
]}

机构：

[1] Temple St Childrens Univ Hosp, Dept Histopathol, Dublin, Ireland

[2] Beaumont Hosp, Dept Neuropathol, Dublin, Ireland

[3] Temple St Childrens Univ Hosp, Dept Paediat, Dublin, Ireland

来源：

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 2018年 / 21卷 / 05期

关键词：

neurodegenerative; intranuclear; inclusions; hyaline inclusion; neuronal inclusions; ubiquitination;

D O I：

10.1177/1093526617724293

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.

引用

页码：494 / 496

页数：3

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