Neuronal intranuclear inclusion disease in a patient who exhibited abnormal behavior

Abstract

A 63-year-old woman with no medical history of note developed acute-onset abnormal behavior persisting for one week. Mild disturbance of consciousness was noted on physical examination. Her blood and spinal fluid test results were normal. On brain MRI, diffusion-weighted image showed a high-intensity signal in U-fiber areas of the bilateral frontal lobes, and fluid-attenuated inversion recovery showed white matter lesions. We suspected neuronal intranuclear inclusion disease (NIID) based on brain MRI findings; therefore, we performed a skin biopsy and genetic test. Pathological findings of the skin biopsy revealed the presence of anti-p62-positive intranuclear inclusion bodies in fibroblasts and adipocytes. The genetic test showed GGC repeat expansion of NOTCH2NLC, but no mutation of FMR1. Thus, we diagnosed her with NIID. The acute-onset abnormal behavior was improved by levetiracetam. The present case indicates that patients with a high-intensity area in the corticomedullary junction should undergo a skin biopsy, even though they may present with non-specific symptoms such as acute-onset abnormal behavior.