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

TL;DR

This case report describes two Chinese siblings with FINCA syndrome and a new NHLRC2 gene variant, highlighting their shared symptoms and treatment outcomes.

Contribution

The study reports a novel NHLRC2 frameshift variant and suggests that glucocorticoid therapy may benefit FINCA-related interstitial lung disease.

Findings

Two Chinese siblings with FINCA syndrome shared similar symptoms and chest CT findings.

The elder sibling died from respiratory failure, while the younger showed improvement with glucocorticoid therapy.

Anti-inflammatory treatment may be beneficial for ILD caused by FINCA syndrome.

Abstract

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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