2 0 0 0 OA A Japanese Case with Nasu-Hakola Disease of DAP12 Gene Mutation Exhibiting Precuneus Hypoperfusion
- 著者
- Kiyotaka Nakamagoe Ayako Shioya Tetsuto Yamaguchi Hiroyuki Takahashi Reiko Koide Tatsuya Monzen Jun-ichi Satoh Akira Tamaoka
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- vol.50, no.22, pp.2839-2844, 2011 (Released:2011-11-15)
- 参考文献数
- 19
- 被引用文献数
- 6 10
A 38-year-old Japanese man with Nasu-Hakola disease (NHD) had repeated pathological fractures and frontal lobe symptoms which developed when he was 18 and 26 years old, respectively. Neuropsychological testing showed memory impairment, and in particular, visuo-spatial memory at the age of 35. Furthermore, single-photon emission computed tomography revealed precuneus hypoperfusion. The patient later suffered prolonged convulsive seizures, which left him in a persistent vegetative state. Genetic testing confirmed a heterozygous mutation in the DAP12 gene (a single-base deletion of 141 G in exon 3) specific to NHD. Precuneus dysfunction might contribute to characteristic memory impairment of NHD.
- 著者
- Makoto Terada Kiyotaka Nakamagoe Naoshi Obara Shinichi Ogawa Noriaki Sakamoto Taiki Sato Seitaro Nohara Shigeru Chiba Akira Tamaoka
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- vol.56, no.3, pp.363-368, 2017-02-01 (Released:2017-02-01)
- 参考文献数
- 26
- 被引用文献数
- 6 9
Central nervous system graft-versus-host disease can present quite a diagnostic challenge. We herein present a case of histologically-confirmed chronic graft versus host disease (GVHD) involving the central nervous system that occurred at 19 months after peripheral blood stem cell transplantation. Cranial magnetic resonance imaging showed areas of confluent hyperintensity in the deep/subcortical white matter with multiple punctate and curvilinear gadolinium enhancements, suggesting the disruption of the blood-brain barrier. A brain biopsy revealed perivascular CD3-positive T cell infiltration around the small vessels. We propose that the detection of punctate-enhanced lesions by magnetic resonance imaging may be a useful finding that facilitates the early diagnosis of chronic GVHD involving the central nervous system.