Jacobsen/Paris-Trousseau Syndrome: Report of a Case with Emphasis on Platelet’s Light Microscopic and Ultrastructure Findings

作     者：Michael Losos Basil M. Kahwash Miriam Conces Joel Thompson Riten Kumar Samir B. Kahwash Michael Losos;Basil M. Kahwash;Miriam Conces;Joel Thompson;Riten Kumar;Samir B. Kahwash

作者机构：Department of Pathology The Ohio State University Wexner Medical Center Columbus OH USA Indiana University Indianapolis IN USA Department of Pathology and Laboratory Medicine Nationwide Children’s Hospital Columbus OH USA Department of Pediatrics The Ohio State University Division of Hematology/Oncology/BMT Nationwide Children’s Hospital Columbus OH USA 

出 版 物：《Open Journal of Pathology》 (病理学期刊（英文）)

年 卷 期：2016年第6卷第1期

页      面：8-13页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Jacobsen Syndrome Paris-Trousseau Syndrome Platelet Microscopic Findings Electron Microscopy 

摘      要：Jacobsen syndrome (JS) is a rare, inherited disorder, characterized by facial and skull dysmorphism, mental retardation, and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet function disorder that may be encountered in patients affected by JS. PTS is manifested by a mild lifelong bleeding tendency. Morphologically, the presence of large fused platelet alpha granules is characteristic. We present a case of Jacobsen syndrome in a child and highlight the typical morphologic and ultrastructure findings of platelets.