C66 PEDIATRIC CASE REPORTS: DIFFUSE LUNG DISEASES: Rubinstein-Taybi Syndrome And Unusual Lung Biopsy Finding Of Pulmonary Alveolar ProteINOSis And Severe Pulmonary Injury

In this case report, we describe the unusual lung finding of globular alveolar proteinosis in a patient with RTS and history of MYC-N neuroblastoma, who also developed apparent drug-induced lung injury. Genetic testing revealed a novel variation of unknown significance in CREBBP gene known as p.Ala2016Val:c.6137C>T. Microarray CGH analysis was also performed with finding of a chromosome 9p24.3 deletion, and Whole Genome Sequencing (WES) finding of carrier status for two autosomal recessive conditions, phenylketonuria (PKU) mutation in the PAH gene [c.842C>T (p.P281L)], and osteogenesis imperfecta (OI) type 11 mutation in the FKBP10 gene [c.831dupC], as well as finding of a mutation in an autosomal dominant condition called familial arrhythmogenic right ventricular dysplasia in the DSG2 gene [c.2434G>A (p.G812S)].