Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature.
| Autor: | Carberry N; Department of Neurology, Neuromuscular Division, University of Miami Miller School of Medicine, Miami, FL, USA., Yu S; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA., Fayerman RN; Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA., Dugue R; Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA., Miller M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA., Tanji K; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA., Goyal T; Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA., Canoll P; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA., Brannagan TH 3rd; Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA. |
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| Jazyk: | angličtina |
| Zdroj: | The Neurohospitalist [Neurohospitalist] 2023 Jan; Vol. 13 (1), pp. 90-95. Date of Electronic Publication: 2022 Oct 09. |
| DOI: | 10.1177/19418744221127849 |
| Abstrakt: | A 31-year-old woman with transthyretin (TTR) amyloidosis secondary to a Thr60Ala mutation developed recurrent stroke-like episodes with fluctuating mental status. Evaluation for stroke and seizures was unrevealing. She was found to have leptomeningeal contrast enhancement on magnetic resonance imaging, which was confirmed to be CNS TTR amyloidosis on histopathology following brain and dura biopsy. While leptomeningeal disease has rarely been known to be associated with TTR amyloidosis, this is the first documented case of leptomeningeal disease secondary to a Thr60Ala mutation in the TTR gene. A literature review of TTR amyloidosis is presented with special focus on the treatment of leptomeningeal TTR amyloidosis. (© The Author(s) 2022.) |
| Databáze: | MEDLINE |
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