Miller Fisher syndrome (MFS) is a variant of Guillain–Barré syndrome characterized by a triad of ophthalmoplegia, ataxia, and areflexia, typically associated with anti-GQ1b antibodies. While cranial nerve enhancement is sometimes seen on high-resolution MRI, involvement of the trigeminal (CN V) and vestibulocochlear (C...
Ayuhei Nako, Koji Hayashi, Mamiko Sato et al.· Reports· 0 citations
A 56-year-old man with a family history of myopathy developed generalized muscle weakness at age 45. At age 52, he was diagnosed with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), confirmed by muscle pathology and a pathogenic VCP mutation (c.464G>A, p.R155H). Concurrent testi...
Sekai Tsujimoto, Koji Hayashi, Mamiko Sato et al.· Diagnostics· 0 citations
A previously healthy 23-year-old woman presented with acute diarrhea, abdominal pain, and bloody mucoid stool following raw beef consumption, with a fever of 37.8 °C. On admission, her vital signs were unremarkable. Blood tests revealed elevated C-reactive protein, hypokalemia, and hypoproteinemia. Abdominal ultrasonog...
Kousuke Kubota, Koji Hayashi, Yohei Midori· Diagnostics· 0 citations
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