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20220308 Shwachman-Diamond综合征
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Shwachman-Diamond syndrome Also referred to as Shwachman-Bodian-Diamond syndrome (SBDS) Rare autosomal recessive disorder Results in the following: Exocrine pancreatic insufficiency Metaphyseal chondrodysplasia Hypoplasia of bone marrow Pathophysiology Caused by mutations in the SBDS gene Epidemiology Rare disorder with incidence of 1 in 76,000 Clinical presentation Pancreatic insufficiency symptoms of diarrhea and weight loss Short stature or limbs Dry skin or eczema Fatigue due to anemia or recurrent infections due to neutropenia Imaging features Radiographs: Rib shortening or cupping CT: Fatty replacement of the pancreas (extreme pancreatic lipomatosis), broadening of the ribs with irregular costochondral calcifications, hypoattenuation of the blood pool due to anemia Ultrasound: Hyperechoic pancreas due to fatty replacement Treatment Symptomatic treatment References Albrecht LA, Gorges SW, Styne DM, Bremer AA. Shwachman-Diamond syndrome presenting as hypoglycemia. Clin Pediatr (Phila). 2009;48(2):212-214. Berrocal T, Prieto C, Pastor I, Gutierrez J, al-Assir I. Sonography of pancreatic disease in infants and children. Radiographics. 1995;15(2):301-313. Mortelé KJ, Rocha TC, Streeter JL, Raylor AJ. Multimodality imaging of pancreatic and biliary congenital anomalies. Radiographics. 26(3):715-731.
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