Neuronal intranuclear inclusion disease presenting with recurrent cerebral infarct-like lesions

Abstract

We report a case of adult-onset neuronal intranuclear inclusion disease associated with recurrent cerebral infarct-like lesions. A 65-year-old man presented with slowly progressing cognitive impairment and parkinsonism. Brain magnetic resonance imaging showed leukoencephalopathy with persistent high-intensity on diffusion-weighted imaging in areas including corticomedullary junctions. Nerve conduction studies showed sensorimotor polyneuropathy. Biopsies of the skin, peripheral nerve and skeletal muscle showed eosinophilic hyaline intranuclear inclusions immunopositive for ubiquitin and p62 in various cells included in each specimen, which confirmed the diagnosis of neuronal intranuclear inclusion disease. The patient had repeated small lesions seemingly considered to be acute cerebral infarctions without obvious causes, such as cardiovascular abnormalities or coagulation abnormalities. Infarct-like lesions recurred even after the antithrombotic therapy. Considering the lack of abnormal findings related to cerebral infarction risk, we suggest that neuronal intranuclear inclusion disease itself might show lesions mimicking cerebral infarctions in this case.