A rare presentation of childhood interstitial lung disease attributed to kdm3b gene mutation: a case report

Childhood Interstitial Lung Disease (chILD) encompasses various respiratory conditions affecting children's lung airspaces and tissues, with diverse causes. One rare cause involves structural vascular changes. We describe a case of a 10-years-old boy diagnosed with chILD who exhibited specific dysmorphic features, developmental delay, and intellectual disability. He was diagnosed with severe pulmonary arterial hypertension (PAH) due to venous thromboembolic disease, an unusual underlying condition for chILD. A Whole Exome Sequence showed mutations in KDM3B and SIN3A genes, respectively responsible for Diets-Jongmans syndrome (DIJOS) and Witteveen-Kolk syndrome (WITKOS). Both syndromes can explain our patient´s phenotype and KDM3B mutation has been previously described to be associated with PAH. Our case suggests a potential association between KDM3B mutation and PAH leading to chILD. It also enriches the knowledge of genotypic diversity in KDM3B and SIN3A genes as well as the spectrum of clinical associations with DIJOS and WITKOS syndromes.