A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy. (September 2018)

• Record Type: Journal Article
• Authors: Pilson, Keith; Farrell, Michael; Lynch, Bryan; Devaney, Deirdre
• Is Part Of: Pediatric and developmental pathology. Volume 21:Number 5(2018)
• Page Start: 494
• Page End: 496
• Publication Date: 2018-09
• Subjects: neurodegenerative -- intranuclear -- inclusions -- hyaline inclusion -- neuronal inclusions -- ubiquitination; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.1177/1093526617724293
• Languages: English
• ISSNs: 1093-5266

Abstract

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.