Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Neuronal intranuclear inclusion disease in a patient who exhibited abnormal behavior

Ryota Ueda, M.D.1)2), Takashi Koizumi, M.D., Ph.D.1)3), Toshiki Mizuno, M.D., Ph.D.4) and Masanori Nakagawa, M.D., Ph.D.1)5)

1) Department of Neurology, North Medical Center Kyoto Prefectural University of Medicine
2) Department of Neurology and Stroke Treatment, Kyoto Daiichi Red Cross Hospital
3) Department of Anatomy and Neurobiology, Kyoto Prefectural University of Medicine
4) Department of Neurology, Kyoto Prefectural University of Medicine
5) Professor emeritus, Kyoto Kyoto Prefectural University of Medicine

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.
Full Text of this Article in Japanese PDF (4036K)

(CLINICA NEUROL, 62: 369−374, 2022)
key words: neuronal intranuclear inclusion disease, skin biopsy, acute-onset abnormal behavior, NOTCH2NLC

(Received: 24-Aug-21)