Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome

Neurogenetics 2026 Open access

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Authors: Thales Pardini Fagundes, Gustavo Maximiano Alves, Mateus Gustavo Favaro, Joyce Yuri Silvestre Yamamoto, Lucas Ravagnani Silva, Lucas Giansante Abud, Jorge Alberto Martins Pentiado
DOI: 10.1007/s10048-026-00883-6
Cited by: 0
References: 23

Abstract

Inflammatory cerebral amyloid angiopathy (CAA-RI) is a variant of CAA, rarely seen in young individuals with Down syndrome (DS). We describe a 32-year-old female with DS who developed a systemic inflammatory state followed by acute neurological symptoms, including seizures and hemiparesis. Brain MRI disclosed asymmetric T2/FLAIR hyperintensities with leptomeningeal enhancement and focal superficial siderosis on susceptibility-weighted imaging, without microbleeds; cerebrospinal fluid showed marked inflammation. After partial improvement with corticosteroids, rituximab was started due to persistent symptoms. This case highlights CAA-RI as a cause of acute decline in DS and supports the use of rituximab in refractory cases.

Fields of Study & Subjects

Intracerebral and Subarachnoid Hemorrhage Research Down syndrome and intellectual disability research Neuroinflammation and Neurodegeneration Mechanisms

Publication details

Journal / source
Neurogenetics
Volume
27
Issue
1
Pages
14–14
Publication date
12 February 2026
Language
EN