Successful embolization of an infected aneurysm of a subsegmental pulmonary artery in an infant with necrotizing MRSA pneumonia.

Para-infections aneurysms are a very rare complication but bear the risk of significant morbidity and mortality in case of rupture and hemorrhage. We present the youngest published case of a right-sided pulmonary artery pseudoaneurysm due to nonmultiresistant pneumonia in a 7-month old boy, complicated by 2 episodes of significant hemorrhage. Selective microvascular plug embolization of the feeding segmental pulmonary artery by interventional radiology and cardiology was successfully undertaken while having a cardiothoracic surgical team on stand-by.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families.