Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Dec;97(49):e13544.
doi: 10.1097/MD.0000000000013544.

A long time radiological follow-up of neuronal intranuclear inclusion disease: Two case reports

Linglong Chen  1 , Lin Wu  1 , Shenghong Li  1 , Qin Huang  2 , Jiajun Xiong  2 , Daojun Hong  3 , Xianjun Zeng  1   4
Affiliations
Case Reports

A long time radiological follow-up of neuronal intranuclear inclusion disease: Two case reports

Linglong Chen et al. Medicine (Baltimore). 2018 Dec.

Abstract

Rationale: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease identified with diffusion-weighted imaging (DWI) high-intensity signal in magnetic resonance imaging (MRI). The disappearance of the abnormal signal is extremely rare.

Patient concerns: We present the 2 cases of patients, both of them were suffering from heterogeneous symptoms. We followed up one of them for 7 years with MRI, the other accepted comprehensive MRI inspections.

Diagnoses: DWI high-intensity signal were observed along the corticomedullary junction in MRI plan scan of heads of 2 patients. For patient 1, the hyperintensities in DWI and fluid-attenuated inversion recovery (FLAIR) images in the occipital lobe disappeared 5 years after onset. Based on the biopsy, patient 1 and 2 were diagnosed as NIID.

Interventions: There have not effective medication and prevention for NIID. Patient 1 and 2 received symptomatic treatment.

Outcomes: Up until now, the patients are alive but the disease is progressing.

Lessons: DWI high-intensity signal is a strong clue for the diagnosis of NIID, but the rare case of the disappearance of it may lead to misdiagnosis.

PubMed Disclaimer

Conflict of interest statement

The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Seven years follow-up of patient 1. The DWI high-intensity signals were observed in the frontal lobes at first and spreading backward along corticomedullary junction. In the image of 5 years after onset, the abnormal DWI signal disappeared. DWI = diffusion-weighted imaging.
Figure 2
Figure 2
The MRI inspections of the second patient. The DWI (B–C), FLAIR (K) and T2WI (A) high-intensity signals were observed in the frontal lobe and the occipital lobe, and meanwhile, there were not obviously abnormality in the contrast-enhanced MRI (E), the magnetic resonance angiography (F), susceptibility weighted imaging (H–J), the MRS images (L) and cerebral blood flow images (G). DWI = diffusion-weighted imaging, FLAIR = fluid-attenuated inversion recovery, MRI = magnetic resonance imaging, MRS = magnetic resonance spectroscopy.
Figure 3
Figure 3
Histological features of the case. Intranuclear inclusions were found stained with anti-ubiquitin (A), and eosin (B).
See this image and copyright information in PMC

References

    1. Lindenberg R, Rubinstein LJ, Herman MM, et al. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol 1968;10:54–73. - PubMed
    1. Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 2016;139:3170–86. - PMC - PubMed
    1. Sone J, Kitagawa N, Sugawara E, et al. Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. J Neurol Neurosurg Psychiatry 2014;85:354–6. - PubMed
    1. Takahashi-Fujigasaki J, Nakano Y, Yuta Uchino A, et al. Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults. Geriatr Gerontol Int 2016;16:51–6. - PubMed
    1. Takahashi-Fujigasaki J. Neuronal intranuclear hyaline inclusion disease. Neuropathology 2003;23:351–9. - PubMed

Publication types

Supplementary concepts