- 著者
- Kentaro CHIBA Yasuo AIHARA Yuichi ODA Kenta MASUI Takashi KOMORI Hideaki YOKOO Takakazu KAWAMATA
- 出版者
- The Japan Neurosurgical Society
- 雑誌
- NMC Case Report Journal (ISSN:21884226)
- 巻号頁・発行日
- vol.10, pp.265-271, 2023-12-31 (Released:2023-10-14)
- 参考文献数
- 32
Extracranial brain tumor metastases are extremely rare. The etiology, pathophysiology, and clinical progression of systemic metastatic brain cancer remain to be elucidated. We encountered a case of pediatric diffuse high-grade astrocytoma in a four-year-old girl with subcutaneous and lymph node metastases. Numerous metastatic lesions emerged, progressed rapidly, and were difficult to manage despite temozolomide (TMZ) administration. The patient underwent repeated surgical resection for these lesions. Conversely, the primary intracranial lesions responded well to TMZ for some time. However, the patient died 15 months after the initial diagnosis. Extracranial metastasis and highly varying effects of chemotherapy were the characteristic clinical features in this case. Our analysis did not reveal definitive histopathological and molecular factors contributing to this presentation. The lack of notable molecular pathological features illustrates the unpredictability of glioma metastasis, and the treatment for extracranial metastasis remains unknown. A gene panel analysis revealed several genetic aberrations, including PDGFRA, PIK3CA, and NBN mutations. As it is impossible to resect all frequently and rapidly progressing lesions, we stress that the prognosis of metastatic brain tumors is undoubtedly poor if these tumors are refractory to existing treatments, including chemotherapy.
- 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
- Ryusei Nishigori Yoko Warabi Yukiko Shishido-Hara Kazuo Nakamichi Yasuhiro Nakata Takashi Komori Eiji Isozaki
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- pp.3038-19, (Released:2019-07-31)
- 参考文献数
- 15
- 被引用文献数
- 5 9
The patient was a 74-year-old woman with rheumatoid arthritis who developed ataxia. MRI revealed T2-hyperintense lesions predominantly in the left middle cerebellar peduncle. Punctate or linear Gd enhancement was also observed on T1-weighted images. A brain biopsy was conducted and the pathology revealed a mild demyelinated lesion. PCR of biopsied brain tissues revealed the presence of JCV DNA, but JCV-infected oligodendroglia-like cells were not apparent on immunohistochemistry. Sensitive in-situ hybridization, however, detected three JCV-positive cells and the infiltration of CD4+ and CD8+ T cells and plasma cells was also observed. Immunosuppressants were tapered off and mirtazapine and mefloquine administered, resulting in a favorable outcome.