A multimodal imaging features of the brain in adult-onset neuronal intranuclear inclusion disease
- 10 Downloads
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder, with highly variable clinical manifestations such as cerebellar ataxia, neuropathy, and cognitive dysfunction , which was characterized pathologically by eosinophilic hyaline intranuclear inclusions in the central and autonomic neurons . However, skin biopsy reveals intranuclear inclusions in somatic cells had been discovered in recent years . Additionally, high signal intensity in the corticomedullary junction on diffusion-weighted imaging (DWI) had been found in NIID patients with leukoencephalopathy diagnosed by a skin biopsy . However, the metabolic alterations of the brain in NIID patients have never been reported. We herein report the case of an adult-onset NIID patient with cognitive dysfunction along with multimodal imaging features of the brain, including MRIs findings and the metabolic alterations of the brain.
The authors thank the patient and her family for the cooperation in this study, and thank Weian Chen for his great help in study. This study was supported by the Science and Technology Foundation of Foshan (2016AB001821) and the National Science Foundation of Zhejiang (LY15H090019).
Yajing Liu and Jiancong Lu equally contributed to the paper. Yukai Wang and Yan Shao equally contributed to the paper.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
- 1.Sone J, Kitagawa N, Sugawara E, Iguchi M, Nakamura R, Koike H, Iwasaki Y, Yoshida M, Takahashi T, Chiba S, Katsuno M, Tanaka F, Sobue G (2014) Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. J Neurol Neurosurg Psychiatry 85(3):354–356CrossRefGoogle Scholar