A case report of an individual with Creutzfeldt–Jakob disease characterized by prolonged isolated thalamic lesions and rare MM2-cortical-type pathology
This case underscores the diagnostic challenges of atypical CJD with isolated thalamic abnormalities on DWI. Despite negative cerebrospinal fluid findings and clinical diagnostic criteria, persistent DWI abnormalities and evolving clinical symptoms continued to raise suspicion of CJD. A definitive diagnosis, being the MM2C (sv + lv) subtype of sCJD, was confirmed upon pathological examination. Even when atypical findings, such as isolated thalamic abnormalities, are observed and various tests are negative, if suspicion of CJD cannot be ruled out, it is important to confirm the diagnosis and pathological subtypes via postmortem analysis.
Authors
- Hitaru Kishida (ORCID: https://orcid.org/0009-0004-5690-2721)
- Mikiko Tada
- Hiroshi Doi (ORCID: https://orcid.org/0000-0001-5807-2523)
- Hideyuki Takeuchi (ORCID: https://orcid.org/0000-0001-5912-7581)
- Shun Kubota (ORCID: https://orcid.org/0000-0002-5291-4571)
- Katsuya Satoh (ORCID: https://orcid.org/0000-0001-8007-8710)
- Misako Kunii (ORCID: https://orcid.org/0000-0002-3294-3009)
- Shunta Hashiguchi
- Tetsuyuki Kitamoto (ORCID: https://orcid.org/0000-0002-6298-2439)
- Naohisa Ueda (ORCID: https://orcid.org/0000-0001-6610-058X)
- Keiichiro Asano
- Keita Takahashi (ORCID: https://orcid.org/0000-0002-4950-1354)
- Fumiaki Tanaka (ORCID: https://orcid.org/0000-0002-0968-8871)
- Haruko Nakamura (ORCID: https://orcid.org/0009-0001-8734-1566)
- Masaki Okubo
- Mitsuo Okamoto
Institutions
- Tohoku University (JP)
- Yokohama City University Medical Center (JP)
- National Center of Neurology and Psychiatry (JP)
- Kanagawa Cardiovascular and Respiratory Center (JP)
- Nagasaki University (JP)
- Yokohama City University (JP)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-11-22
- DOI
- https://doi.org/10.1186/s12883-024-03958-9
- Primary Topic
- Prion Diseases and Protein Misfolding
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science