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Case Reports
. 2023 Jan;13(1):90-95.
doi: 10.1177/19418744221127849. Epub 2022 Oct 9.

Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature

Nathan Carberry  1 , Sun Yu  2 , Raisy N Fayerman  3 , Rachelle Dugue  3 , Michael Miller  2 , Kurenai Tanji  2 , Tarini Goyal  3 , Peter Canoll  2 , Thomas H Brannagan 3rd  3
Affiliations
Case Reports

Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature

Nathan Carberry et al. Neurohospitalist. 2023 Jan.

Abstract

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.

Keywords: CNS involvement; TTR amyloidosis; leptomeningeal disease; plateau waves; stroke-like episodes; transthyretin amyloidosis.

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Figures

Figure 1.
Figure 1.
Family pedigree of patient (starred) showing penetrance of transthyretin amyloidosis.
Figure 2.
Figure 2.
T1-post-contrast MRI of the brain of the patient showing (A) coronal, (B) sagittal, and (C) axial views. The arrows reflect enhancement throught to be related to leptomeningeal disease. The circles reflect sites of dura and brain biopsy.
Figure 3.
Figure 3.
Brain and dura biopsy. (A-F) Right temporal brain biopsy shows transthyrentin deposition in both leptomeninges and subpial brain parenchyma. (A). H&E image; (B). Transthyrentin (prealbumin) immunostaining; (C). PAS stain; (D). Congo red special strain; (E). Apple-green birefringence with polarized light; (F). Thioflavin immunofluorescence stain. (G-I) Right temporal dura biopsy displays transthyretin deposition in blod vessel walls. (G). H&E image; (H). Congo red special stain; (I). Beta-amyloid immunostaining. A, B, G, H, I: scale bar = 500μm; C, D, E, F: scale bar = 100μm.
See this image and copyright information in PMC

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