All issues > Volume 47(8); 2004

Case Report

Korean J Pediatr. 2004;47(8):900-903. Published online August 15, 2004.

A Case of Shwachman-Diamond Syndrome

Jeong Won JW Kwak¹, Suk S Kim², Young Tak YT Lim¹

¹Departments of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
²Departments of Radiology, College of Medicine, Pusan National University, Pusan, Korea

Correspondence Young Tak YT Lim ,Email: limyt@pusan.ac.kr

Abstract

Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia and a high risk of development of leukemia. We report a case of SD syndrome in a 10-year-old boy who presented with failure to thrive and myelodysplastic syndrome.

Keywords :Shwachman-Diamond syndrome, Bone marrow disease