DOI: 10.12890/2026_007397

Hirayama disease in a patient with Loeys-Dietz syndrome: the first reported association

Authors

  • Lorenzo Silva-Hernandez Neuromuscular Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain 0000-0002-5165-2653
  • Borja Cabal-Paz Neuromuscular Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain
  • Pablo Tutor de Ureta Rare Disorders Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain
  • Beatriz Brea-Álvarez Neuroradiology Department, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain
  • Beatriz De la Puente-Garrido Neuromuscular Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain

lorenzo.silvaher@gmail.com

Keywords

Hirayama disease, Loeys-Dietz syndrome, cervical flexion myelopathy, dural ectasia, connective tissue disorder

Abstract

Introduction: Hirayama disease (HD) is a rare, self-limiting cervical flexion myelopathy causing progressive, painless distal upper-limb weakness, typically in young Asian males. Loeys-Dietz syndrome (LDS) is a heritable connective tissue disorder due to TGF-β pathway variants, associated with dural ectasia. Their co-occurrence has not previously been reported.
Case description: We describe a 23-year-old woman with genetically confirmed LDS type 2 who developed progressive, painless distal upper-limb weakness, initially unilateral and later bilateral. Examination and electrophysiology showed a C7–T1 polyradicular pattern. Dynamic flexion cervical magnetic resonance imaging (MRI) demonstrated anterior displacement of the posterior dural sac at C5–C7, fully reversible on extension, confirming HD.
Conclusion: This presentation was atypical for HD (female sex, third-decade onset, bilateral course), yet electrophysiological and dynamic-MRI findings were unequivocal. HD should be considered in patients with heritable connective tissue disease presenting with progressive distal upper-limb weakness, irrespective of sex or age, and dynamic flexion MRI is essential for diagnosis.

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References

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Published

2026-09-25

Issue

Vol. 13 No. 10 (2026)

Categories

How to Cite

1.
Silva-Hernandez L, Cabal-Paz B, Tutor de Ureta P, Brea-Álvarez B, De la Puente-Garrido B. Hirayama disease in a patient with Loeys-Dietz syndrome: the first reported association. EJCRIM [Internet]. 2026 Sep. 25 [cited 2026 Nov. 4];13(10). Available from: https://ejcrim.com/index.php/ejcrim/article/view/7397