Carberry Nathan, Yu Sun, Fayerman Raisy N, Dugue Rachelle, Miller Michael, Tanji Kurenai, Goyal Tarini, Canoll Peter, Brannagan Thomas H
Department of Neurology, Neuromuscular Division, University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.
Neurohospitalist. 2023 Jan;13(1):90-95. doi: 10.1177/19418744221127849. Epub 2022 Oct 9.
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.
一名31岁患有继发于苏氨酸60丙氨酸（Thr60Ala）突变的转甲状腺素蛋白（TTR）淀粉样变性的女性出现反复的类似中风发作，伴有精神状态波动。对中风和癫痫的评估未发现异常。她在磁共振成像上显示软脑膜对比增强，经脑和硬脑膜活检后的组织病理学证实为中枢神经系统TTR淀粉样变性。虽然软脑膜疾病很少被认为与TTR淀粉样变性有关，但这是第一例记录在案的继发于TTR基因中Thr60Ala突变的软脑膜疾病病例。本文对TTR淀粉样变性进行了文献综述，特别关注软脑膜TTR淀粉样变性的治疗。
