# 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.

## Key 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.