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

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

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 12 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1402545

DOI=10.3389/fped.2024.1402545

ISSN=2296-2360

ABSTRACT=Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome is an autosomal recessive inherited disease caused by mutations in the 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 in infancy and similar chest CT characterized by bilateral ground-glass opacities and consolidations. The elder brother died of infantile respiratory failure, while in the younger brother, respiratory symptoms improved together with chest CT and krebs von den Lungen-6 (KL-6) level after long-term systemic glucocorticoid therapy, indicating that anti-inflammatory treatment may be beneficial in the treatment of ILD caused by FINCA syndrome.