A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy
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DOI：
10.1177/1093526617724293
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发表时间：
2018-09-01
影响因子：
1.9
通讯作者：
Devaney, Deirdre
中科院分区：
文献类型：
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作者：
Pilson, Keith;Farrell, Michael;Devaney, Deirdre
神经元核内（透明）包涵体病（NIID）是一种罕见的神经退行性疾病，具有多种临床表现和多种亚型。我们介绍了一名青少年发病的 NIID 患者的临床病理学细节并讨论了发病机制。我们还讨论了生前皮肤活检的实用性，该活检在我们的病例中呈阴性。
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.