Resham Shahzadi, Fadoo Zehra, Moiz Bushra
Departments of Pediatrics and Child Health.
Oncology.
J Pediatr Hematol Oncol. 2019 Jan;41(1):e60-e62. doi: 10.1097/MPH.0000000000001226.
Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion. The patient is alive at 6-month post follow-up, and on regular plasma therapy. Congenital thrombotic thrombocytopenic purpura should be considered in the differential diagnosis of thrombocytopenia with hemolytic anemia in infants.
先天性血栓性血小板减少性紫癜是一种罕见的常染色体隐性疾病，表现为溶血性贫血、血小板减少、微血管血栓形成和终末器官损伤。在此，我们报告一例7岁女童，有反复新生儿溶血、发育迟缓、频繁癫痫发作和血小板减少。具有血小板反应蛋白基序的去整合素和金属蛋白酶13的特征性临床表现和基因测序确诊了厄普肖-舒尔曼综合征。她通过血浆输注成功治愈。患者在随访6个月时存活，并接受定期血浆治疗。在婴儿期血小板减少伴溶血性贫血的鉴别诊断中应考虑先天性血栓性血小板减少性紫癜。
