一例生前皮肤活检阴性的青少年起病的神经元核内包涵体病病例。
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy.
作者信息
Pilson Keith, Farrell Michael, Lynch Bryan, Devaney Deirdre
机构信息
1 Department of Histopathology, Temple Street Children's University Hospital, Dublin, Ireland.
2 Department of Neuropathology, Beaumont Hospital, Dublin, Ireland.
出版信息
Pediatr Dev Pathol. 2018 Sep-Oct;21(5):494-496. doi: 10.1177/1093526617724293. Epub 2017 Aug 30.
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.
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，临床表现多样，有多种亚型。我们介绍了一名青少年起病的NIID患者的临床病理细节并讨论了其发病机制。我们还讨论了生前皮肤活检的效用，在我们的病例中其结果为阴性。
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