From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-related Loeys-Dietz Syndrome

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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BibTeX RIS

BibTeX

@article{nezu2026from,
  title = {{From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-related Loeys-Dietz Syndrome}},
  author = {Masahiro Nezu and Hideto Eguchi and Aritaka Makino},
  journal = {Internal Medicine},
  year = {2026},
  month = jul,
  doi = {10.2169/internalmedicine.6513-25},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6513-25/_article},
  note = {CC BY-NC-ND},
}

RIS

TY  - JOUR
TI  - From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-related Loeys-Dietz Syndrome
AU  - Masahiro Nezu
AU  - Hideto Eguchi
AU  - Aritaka Makino
PY  - 2026
DA  - 2026/07/15
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.6513-25
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6513-25/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -

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