Journal
INTERNAL MEDICINE
Volume 57, Issue 23, Pages 3459-3462Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.1141-18
Keywords
neuronal intranuclear inclusion disease; autopsy; cognitive impairment; sensorimotor neuropathy
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Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.
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