Frontiers in Pediatrics (Mar 2023)

Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder

  • Xiao Li,
  • Yu Tang,
  • Lei Zhang,
  • Yuan Wang,
  • Weihua Zhang,
  • Ying Wang,
  • Yuelin Shen,
  • Xiaolei Tang

DOI
https://doi.org/10.3389/fped.2023.1118097
Journal volume & issue
Vol. 11

Abstract

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This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder (NMOSD), which is a very rare phenotype. Clinical manifestations expanded the phenotype of COPA syndrome. Notably, there is no definitive treatment for COPA syndrome. In this report, the patient has achieved short-term clinical improvement with sirolimus.

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