ArticleInternal medicine (Tokyo, Japan)2026
From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-related Loeys-Dietz Syndrome.
Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
A 49-year-old man with prior DeBakey IIIb dissections underwent preoperative spinal magnetic resonance imaging for lumbar stenosis, which incidentally showed lumbosacral dural ectasia and bilateral pedicle thinning. Orthopedic review and cross-disciplinary discussion prompted reconsideration of Marfan syndrome. Under the revised Ghent criteria, the patient did not meet the diagnostic criteria despite a high systemic score (11). Targeted testing identified heterozygous PMEPA1 c.624dup, p. (Ser209Glnfs*3), supporting Loeys-Dietz syndrome with skeletally predominant features. This case illustrates that spine-MRI red flags should prompt Ghent-based re-examination and genetic referral when aortic-root features are absent, and genetic confirmation should guide cascade testing and risk-adapted surveillance of relatives.
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