REVUE ALGERIENNE D’ALLERGOLOGIE
Volume 11, Numéro 2, Pages 35-38
2026-07-30
A Rare Genetic Cause Of Pediatric Interstitial Lung Disease And Immunodeficiency: Identifying Finca Syndrome
Authors : Abdelbari Marwa . Bouguila Jihene . Tej Amel . Jaballah Nessrine . Soyah Najla . Tilouche Samia . Kebaili Raoudha . Boughammoura Lamia .
Abstract
Abstract Background: Fibrosis, Neurodegeneration, and Cerebral Angiomatosis (FINCA) syndrome is a recently described multisystem disorder primarily affecting infants, often with poor respiratory prognosis. It is caused by mutations in the NHLRC2 gene. While clinical presentation typically includes progressive cerebro-pulmonary symptoms, growth failure, and malabsorption, there is significant phenotypic variability among the few cases reported worldwide. Interstitial lung disease (ILD) and immune dysfunction are increasingly recognized as critical, yet under-reported, manifestations of this syndrome. Case Presentation: We report a novel case of FINCA syndrome in an 18-month-old boy of north african descent, presenting with a new pathogenic variant. The patient experienced recurrent episodes of acute respiratory distress, exacerbated by uncoordinated swallowing (aspiration) and pulmonary superinfections. Over time, progressive dystonia and neurological decline became prominent, with neuroimaging revealing cortical and subcortical atrophy. Notably, the clinical course was marked by recurrent infections, including two occurrences of fungal skin abscesses, providing strong evidence of the immunodeficiency associated with certain NHLRC2 variants. Conclusion: This report contributes to the clinical and genetic expansion of FINCA syndrome by identifying a novel variant and emphasizing its role as a rare etiology of both pediatric interstitial lung disease and primary immunodeficiency. Our findings underscore the importance of multisystemic screening in children presenting with concomitant neurological and respiratory decline.
Keywords
Interstitial lung disease ; immunodeficiency ; genetic ; neurodevelopmental delay
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