Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature
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- Nathan Carberry
- Department of Neurology, Neuromuscular Division, University of Miami Miller School of Medicine, Miami, FL, USA
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- Sun Yu
- Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA
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- Raisy N. Fayerman
- Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA
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- Rachelle Dugue
- Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA
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- Michael Miller
- Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA
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- Kurenai Tanji
- Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA
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- Tarini Goyal
- Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA
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- Peter Canoll
- Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA
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- Thomas H. Brannagan
- Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA
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説明
<jats:p> 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. </jats:p>
収録刊行物
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- The Neurohospitalist
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The Neurohospitalist 13 (1), 90-95, 2022-10-09
SAGE Publications