Beyond β-amyloid: transthyretin cerebral amyloid angiopathy.
Carla Vera-Cáceres, Carolina Montecino Romanini, Montserrat González Platas et al.
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Case in brief
A 44-year-old man presented with recurrent upper-limb and perioral sensory symptoms, later identified as transient focal neurological episodes. He developed bilateral vitritis and progressive cognitive and psychiatric decline. Neuroimaging revealed leptomeningeal hyperdensities and hemorrhagic lesions. A biopsy confirmed transthyretin (TTR) amyloid deposits, and genetic testing identified a TTR variant. The patient ultimately experienced severe disability and died at 55 from respiratory failure.
What made this case unusual
This case emphasizes transthyretin-related cerebral amyloid angiopathy (TTR-CAA) as a significant non-β-amyloid cause of neurological symptoms, including transient focal neurological episodes and calcified leptomeningeal infiltration.
Diagnostic / clinical pearl
Clinicians should consider TTR-CAA in patients with unexplained neurological symptoms and atypical imaging findings, particularly when β-amyloid is not detected.
Why it matters
Recognizing TTR-CAA can lead to better understanding and management of atypical presentations of cerebral amyloid angiopathy, expanding the differential diagnosis beyond β-amyloid-related conditions.