Frontiers in Pediatrics (Sep 2024)

Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2

  • Yuemei Liu,
  • Hongling Wang,
  • Yu Tang,
  • Lei Zhang,
  • Yanyan Su,
  • Yanqion Wang,
  • Shasha Xu,
  • Shiyue Mei,
  • Chunyang Jia,
  • Yuelin Shen,
  • Xiaolei Tang

DOI
https://doi.org/10.3389/fped.2024.1402545
Journal volume & issue
Vol. 12

Abstract

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Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome is an autosomal recessive genetic disorder caused by mutations in NHL-repeat-containing protein 2 (NHLRC2) gene. This case report describes two Chinese siblings with FINCA syndrome carrying a novel frameshift variant, c.1610dupT (p.L537Ffs*17), of NHLRC2 gene. They shared similar symptoms of interstitial lung disease (ILD) and neurodegeneration, with early onset during infancy, and shared similar chest CT findings of bilateral ground-glass opacities and consolidations. The elder brother died of infantile respiratory failure, while the younger brother showed improvement in respiratory symptoms, chest CT, and Krebs von den Lungen-6 levels after long-term systemic glucocorticoid therapy, indicating that anti-inflammatory treatment may be beneficial in the treatment of ILD caused by FINCA syndrome.

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