Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature.
CNS involvement
TTR amyloidosis
leptomeningeal disease
plateau waves
stroke-like episodes
transthyretin amyloidosis
Journal
The Neurohospitalist
ISSN: 1941-8744
Titre abrégé: Neurohospitalist
Pays: United States
ID NLM: 101558199
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
pmc-release:
01
01
2024
entrez:
19
12
2022
pubmed:
20
12
2022
medline:
20
12
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36531853
doi: 10.1177/19418744221127849
pii: 10.1177_19418744221127849
pmc: PMC9755614
doi:
Types de publication
Case Reports
Langues
eng
Pagination
90-95Informations de copyright
© The Author(s) 2022.
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