Pancreatic Insufficiency with Bone Marrow Dysfunction (Shwachman-Diamond-Oski-Khaw's Syndrome) Report of a Case

A 2-year-9-month-old Japanese boy was reported of the ‘pancreatic insuffi- ciency with bone marrow dysfunction syndrome’, which was first described by Shwachman, Diamond, Oski and Khaw in 1964. Main clinical features of our own patient consisted of failure to gain weight, steatorrhea, pancytopenia, the absence of trypsin, lipase and amylase activities in the pancreatic juice, and no increase in the sweat chloride concentration. At autopsy there were massive hemorrhages into the brains and gastrointes-tinal tracts and petechial hemorrhages in the lungs, pleurae, pen- and endocar-dium, psoas muscles and renal pelvis. Histological examination of the pancreas revealed that the tissue was mostly composed of adipose tissue containing the islets of Langerhans which were preserved well and had almost normal appearance. Histological examination of the bone marrow revealed the absence of mega- karyocytes.