著者

Azusa Orihara Natsuki Miyakoshi Yoko Sunami Hideki Kimura Yasuhiro Nakata Takashi Komori Jun Sone Kazushi Takahashi

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.0156-22, (Released:2022-10-26)

参考文献数

14

被引用文献数

1

---

A 75-year-old man presented with headache and disturbance of consciousness. Magnetic resonance imaging revealed edema localized mainly in the cortex and linear contrast enhancement. A brain biopsy revealed numerous astrocytes with inclusion, and genetic testing demonstrated prolonged GGC repeats in NOTCH2NLC. The present case provided two novel insights into the mechanism underlying encephalopathy associated with neuronal intranuclear inclusion disease. First, the histological findings at a site with contrast enhancement on magnetic resonance imaging did not demonstrate any organic association, such as the presence of inflammation or ischemic changes. Second, the imaging and cerebrospinal fluid findings demonstrated increased cerebral blood flow and opening of the blood-brain barrier, indicating the cause of the cerebral swelling.

著者

Aiko Tamura Yuzo Fujino Jun Sone Kensuke Shiga

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.6371-20, (Released:2021-03-01)

参考文献数

8

被引用文献数

5

---

Leukoencephalopathy with high-intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI) is a diagnostic hallmark for neuronal intranuclear inclusion disease (NIID). We herein report a 65-year-old man who developed dementia and was diagnosed with NIID 2 years later. Of note, he had coincidentally undergone brain magnetic resonance imaging 14 and 10 years before the onset of dementia. No abnormalities were discerned on DWI on either of these occasions, but high-intensity signals in the corticomedullary junction on DWI were revealed two years before the clinical onset. The early recognition of this pathognomonic white matter change may facilitate the presymptomatic diagnosis of NIID.