615 Congenital Lung Malformations Presenting with Similar Chest X-Ray Changes at Birth

Abstract

Introduction Griscelli syndrome type 2 is a rare disorder charecterised by pigment dilution (silvery hair), variable immune deficiency, and tendency to develop a life threatening hemophagocytic syndrome. Presentation in neonatal life is even more rare. Materials and Methods These are three siblings to first cousin parents who presented with Griscelli syndrome in the neonatal life with dessimel outcome. Results J, A, S, are three siblings, two sisters and one brother born to first cousin parents. All had normal vaginal full term delivery. All presented on day one of life with pallor, silvery hair, and hepatosplenomegaly. Investigations revealed variable degrees of anemia & thrombocytopenia. BM revealed hemophagocytic syndrome. There was no HLA matched BM donor so they were treated conservatively. They had repeated admissions for infections and received several blood and platalet transfusion. They had stoem courses and died by two months of age. Conclusion This is probablly the largest series of Griscelli syndrome presenting in neonatal life. BM is the only hope fore this syndrome. Athorough family history is always helpfull in diagnosing difficult cases.