Unilateral Hemispheric Edema and Hyperperfusion in Neuronal Intranuclear Inclusion Disease.

A 73-year-old man presented with recurrent encephalitis/stroke-like episodes over the past 23 years. Multimodality CT indicated an asymmetry lesion, presenting with cerebral edema, hyperperfusion, and gyrus-like enhancement in the left cerebral hemisphere (Figure 1, A-C). Furthermore, vessel density increased on the left side (Figure 1D). MRI showed that the lesions were mainly distributed in the cortex of the frontal, parietal, temporal, occipital, and insular lobes of the left hemisphere (Figure 2, A and B). In addition to these cortical lesions, bilateral white matter lesions were also revealed (Figure 2C), and diffusion kurtosis imaging confirmed the injury of white matter tracts (Figure 2D). The patient was diagnosed with neuronal intranuclear inclusion disease based on the findings of eosinophilic spherical inclusions positive for anti-p62 in the nucleus of neurons in the left hemisphere, as well as 70 repeats in NOTCH2NLC. Two months later, he could raise the right arm but still had disorientation and aphasia.