Table 1 The summary of the 13 cases of NIID case showing encephalitis-like episode
From: A case report of neuronal intranuclear inclusion disease and literature review
No. | Author/year | Age, gender | Race | Sporadic or familiar | Initial symptoms | Clinical manifestations and signs | Radiological findings (Hyperintensity in T2WI/FLAIR) | Corticomedullary junction hyperintensity in DWI | Treatment | Prognosis | NOTCH2NLC GGC repeats expansion |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Li/2023 | Male, 55 | Asian | Sporadic | Headache and fever | Acute onset of headache and fever, accompanied by seizure, cognitive decline, and disturbance of consciousness. | Diffuse hyperintense lesion in bilateral white matter, with focal cortical swelling and meningeal enhancement. | Bilateral frontal lobes | Steroid and acyclovir | improved | 48 and 110, respectively |
2 | Mori/2022 [9] | Female, 61 | Asian | Sporadic | Parkinsonism symptoms | Parkinsonism for approximately 10 years, accompanied with subacute onset of headache and disturbance of consciousness. | Hyperintense lesion in the right temporooccipital lobes, with cortical swelling and enhancement. Hyperintense lesions was reversible. | Bilateral frontoparietal lobes gradually develop to temporooccipital lobes. Hyperintensities on DWI was reversible. | Steroid | improved | Not detected |
3 | Mizutani/2022 [10] | Male, 75 | Asian | Sporadic | Consciousness disturbance | Subacute onset of conscious disturbance, with transient fever, vomiting urinary retention and left hemispatial neglect. | Diffuse high-intensity lesions in the bilateral cerebral white matter. | Negative | No treatment | Improve spontaneously. | Repeat expansion of GGC amplification |
4 | Huang/2021 [11] | Female, 68 | Asian | Sporadic | Recurrent aphasia and right limb weakness | Recurrent aphasia and right limb weakness, accompanied by fever, cognitive impairment, and mental irritability | Hyperintense leisons in white matter region bilateral hemispheres. | Bilateral hemispheres | symptomatic and supportive treatments | Improved | 102 |
5 | Ataka/2021 [12] | Female, 75 | Asian | Sporadic | Consciousness disturbance and fever | Disturbance of consciousness and fever | Swelling of the left hemisphere | Left hemisphere | No specific treatment | improved | Not performed |
6 | Liang/2020 [13] | Female, 56 | Asian | Sporadic | Recurrent headache | Recurrent headache, then suffered from recurrent episodes of fever, aphasia, cognitive impairment, and consciousness disturbance. | No abnormal intensity in the early course, then MRI showed hyperintensities, cortical edema and enhancement.The hyperintensities and enhancement was reversible. | No DWI abnormality in the early course, then in focal lobes. The high signal in DWI was reversible. | Steroid | Improved | Number of GGC exceeded at least 100 repeat expansions |
7 | Liang/2020 [13] | Female, 35 | Asian | Sporadic | Migraine | Migraine history for three years and episodic encephalopathy (headache attacks initially, and then developed behavior abnormalities and consciousness disturbance) | Brain MRI showed difuse high signals of white matter on T2/FLAIR images with cortical enhancement. | Bilateral frontal hemispheres | Steroid | improved | Number of GGC exceeded at least 100 repeat expansions |
8 | Liang/2020 [13] | Male, 53 | Asian | Sporadic | Dysuria and memory decline | Urinary retention, then experienced several episodes of consciousness disturbance and gradually showed memory decline. | Brain MRI showed difuse high signals of white matter on T2/FLAIR images with cortical enhancement. | Bilateral frontal hemispheres | Steroid | Improved | Number of GGC exceeded at least 100 repeat expansions |
9 | Liang/2020 [13] | Female, 61 | Asian | Sporadic | Tremor | Tremor, pulsating headaches, memory decline, and urine urgency. Then she she experienced several episodes of consciousness disturbance. | Brain MRI showed diffuse high signals of white matter on T2/FLAIR images with cortical enhancement. | Bilateral hemispheres | Steroid | Improved | Number of GGC exceeded at least 100 repeat expansions |
10 | Li/2020 [14] | Female, 63 | Asian | Sporadic | Episodic encephalopathy | Two episodes of encephalopathy | Not mentioned | Bilateral frontal lobes | Symptomatic and supportive treatments | Improved | 96 |
11 | Suthiphosuwan/2019 [15] | Female, 56 | Canadian of Chinese descent | With suspected family history | Recurrent transient loss of consciousness. | She suffered a 30-year history of episodic loss of consciousness At the 56, she was admitted for transient loss of consciousness, followed by altered mental status and transcortical motor aphasia. | Bilateral high signals along the corticomedullary junction of bilateral frontal lobe, paravermal region, and middle cerebellar peduncles on T2/FLAIR imaging. | Bilateral cerebral hemispheres with frontal lobe predilection | Not mentioned. | Not mentioned. | Not preformed. |
12 | Xiao/2018 [16] | Male, 19 | Asian | Sporadic | Extrapyramidal symptoms | Progressive extrapyramidal symptoms and weakness, then developed recurrent transient of encephalitic episodes. | Bifrontal and right occipital white matter hyperintensity involving cortical U fibers | Bifrontal and right occipital lobes | acyclovir and steroid | Improved | Not performed. |
13 | Nakamura/2018 [17] | Male, 68 | Asian | Sporadic | Urinary dysfunction | urinary dysfunction and for six years then presented with transient loss of consciousness and cognitive dysfunction | Hyperintensity in white matter in bilateral hemispheres | Bilateral hemispheres | Not mentioned | Not mentioned | Not performed |