1. Refining the spectrum of neuronal intranuclear inclusion disease : A case report
- Author
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Shami Melhem, Lies Anne Severijnen, John C. van Swieten, Meike W. Vernooij, Harro Seelaar, Renate K. Hukema, Manuela Neumann, Chiara Cupidi, Anke A. Dijkstra, Annemieke J. M. Rozemuller, Pathology, Amsterdam Neuroscience - Neurodegeneration, Neurology, Radiology & Nuclear Medicine, and Clinical Genetics
- Subjects
Pathology ,Intranuclear Inclusion Bodies ,diagnostic imaging [Neurodegenerative Diseases] ,P62 ,Hippocampus ,Neuronal intranuclear inclusion disease ,Myelin ,Nerve Fibers ,0302 clinical medicine ,pathology [Brain] ,Intranuclear inclusions ,Myelin Sheath ,Cerebral Cortex ,Temporal cortex ,Muscle Weakness ,Parkinsonism ,pathology [Neurodegenerative Diseases] ,Leukoaraiosis ,Brain ,Neurodegenerative Diseases ,pathology [Nerve Fibers] ,General Medicine ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Neurology ,pathology [Leukoaraiosis] ,Neuroglia ,Female ,psychology [Cognitive Dysfunction] ,Autopsy ,medicine.symptom ,Optineurin ,medicine.medical_specialty ,Ataxia ,Clinical Neurology ,Pathology and Forensic Medicine ,White matter ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,pathology [Myelin Sheath] ,medicine ,Humans ,Cognitive Dysfunction ,ddc:610 ,diagnostic imaging [Brain] ,pathology [Muscle Weakness] ,Aged ,pathology [Neuroglia] ,business.industry ,pathology [Intranuclear Inclusion Bodies] ,medicine.disease ,Diffusion Magnetic Resonance Imaging ,pathology [Cerebral Cortex] ,Dementia ,psychology [Neurodegenerative Diseases] ,Neurology (clinical) ,Atrophy ,business ,030217 neurology & neurosurgery - Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare heterogeneous progressive neurodegenerative disease characterized by the presence of eosinophilic hyaline intranuclear inclusions in neuronal and glial cells of the CNS, peripheral cells of the autonomic nervous system, visceral organs and skin. The clinical presentation is broadly heterogeneous and includes limb weakness, dementia, seizures, ataxia, and parkinsonism. High-intensity signal in the corticomedullary junction on brain MRI is a characteristic finding in NIID. We describe a 65-year-old patient presenting with mild cognitive impairment, evolving in dementia with behavioral disturbances and parkinsonism. Brain MRI showed mild global cortical atrophy, more pronounced in the cingulate and temporal cortex and mild leukoaraiosis, but no high-intensity signal in corticomedullary junction on diffusion weighted imaging. Neuropathological examination showed p62- and optineurin-positive neuronal intranuclear inclusions in the hippocampus and in some subcortical structures. Glial cells did not present any intranuclear inclusions, and no spongiotic changes proximal to the U-fibers or diffuse myelin pallor were disclosed in the white matter. We report on a case with pathological features of NIID showing different neuroimaging and pathological findings. We noted an absence of typical MRI abnormalities, lack of intranuclear inclusions in glial cells, and prominent involvement of hippocampal neurons, refining the clinico-pathological spectrum of the disease.
- Published
- 2019