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

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Abstract
A 2-year-9-month-old Japanese boy was reported to have pancreatic insufficiency with bone marrow dysfunction syndrome, which was first described by Shwachman, Diamond, Oski and Khaw in 1964. Main clinical features of this 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 gastrointestinal tracts and petechial hemorrhages in the lungs, pleurae, peri- and endocardium, psoas muscles and renal pelvis. Histological examination of the pancreas revealed that the tissue was mostly composed of adipose tissue containing islets of Langerhans that were well preserved and had an almost normal appearance. Histological examination of the bone marrow revealed the absence of megakaryocytes.