Case Report: Ischemic Stroke Presentation in Loeys-Dietz Syndrome Type 3

A 78.7 KB case report document published on figshare by Cong-Xin Chen on 2026-05 25. It details a 32-year-old Chinese woman presenting with acute ischemic stroke, later diagnosed with Loeys-Dietz syndrome type 3 via genetic testing, and includes significant family history.

Use Cases

• Study rare disease presentation based on the detailed case description of ischemic stroke as an initial symptom.
• Analyze genetic-phenotype correlations based on the reported SMAD3 p.Arg287Trp variant.
• Investigate familial patterns of vascular disease based on the included family history of aortic dissection.
• Review imaging findings for vascular abnormalities based on the described multiple arterial aneurysms and stenosis.

Strengths

• Includes specific genetic variant identification: NM_005902.4:c.859C>T (p.Arg287Trp) in SMAD3.
• Provides detailed clinical and imaging findings for a single, well-documented case.
• Released under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report (78.7 KB), representing a very limited scope.

Provenance

Source

figshare

Collection Method

Clinical case documentation and genetic analysis.

Time Range

Case report date is unspecified; document last updated 2026-05-25.

Freshness

Last updated 2026-05-25 22:03:35; freshness should be verified.

Geography

Case involves a patient from China.