Zheng Jie, Wei Zhao-Yu, Lin Shi-Chao, Wang Yong, Fang Xin
Department of Pediatrics, FuJian Medical University Union Hospital, Fuzhou, China.
Front Pediatr. 2024 Oct 18;12:1370285. doi: 10.3389/fped.2024.1370285. eCollection 2024.
Antiphospholipid syndrome (APS) is a systemic autoimmune disorder that can manifest as thrombosis in the pediatric population, characterized by persistently positive antiphospholipid antibodies. APS is infrequently observed in children and could represent non-criteria manifestations.
A six-year-old Chinese female presented with jaundice and dark urine, leading to a diagnosis of hemolytic anemia. Prednisone therapy initially improved her complexion, but she later developed neurological symptoms. Further laboratory tests showed intravascular hemolysis, coagulation abnormalities, and a positive lupus anticoagulant (LA) test result. Magnetic resonance imaging (MRI) scan revealed abnormal signals in the pons and cerebellar hemispheres, and an occluded part of the basilar artery. She was subsequently diagnosed with autoimmune encephalitis and received IG(immunoglobulin) and high-dose glucocorticoid (GC) treatment, leading to improvement in her clinical symptoms. However, the symptoms of hemolytic anemia worsened after two years. Subsequent laboratory assessments demonstrated the presence of intravascular hemolysis, coagulation abnormalities, and positive tests of anticardiolipin, LA, and anti-beta2 glycoprotein I antibodies. Elevated troponin I and N-terminal pro-brain natriuretic peptide levels, along with electrocardiogram and echocardiogram findings, indicated a myocardial infarction and a thrombus-like mass in the left auricle. Brain MRI showed multifocal infarction and cerebrovascular obstruction. She was diagnosed with APS accompanied by hemolytic anemia, cerebrovascular obstruction, and myocardial infarction. After several weeks of treatment with GC, IG, rituximab, hydroxychloroquine alone with low-molecular-weight heparin sodium, and warfarin, there was a marked improvement in the patient's condition.
Pediatricians should be familiar with various presentations of pediatric APS to promptly detect possible aPL-related complications and initiate appropriate management strategies early on.
抗磷脂综合征（APS）是一种全身性自身免疫性疾病，在儿科人群中可表现为血栓形成，其特征为抗磷脂抗体持续阳性。APS在儿童中很少见，可能表现为非标准症状。
一名6岁中国女性因黄疸和深色尿就诊，诊断为溶血性贫血。泼尼松治疗最初改善了她的面色，但后来她出现了神经症状。进一步实验室检查显示血管内溶血、凝血异常，狼疮抗凝物（LA）检测结果呈阳性。磁共振成像（MRI）扫描显示脑桥和小脑半球有异常信号，基底动脉部分闭塞。随后她被诊断为自身免疫性脑炎，并接受了免疫球蛋白（IG）和大剂量糖皮质激素（GC）治疗，临床症状有所改善。然而，两年后溶血性贫血症状恶化。随后的实验室评估显示存在血管内溶血、凝血异常，抗心磷脂、LA和抗β2糖蛋白I抗体检测呈阳性。肌钙蛋白I和N末端脑钠肽前体水平升高，以及心电图和超声心动图检查结果表明存在心肌梗死和左心房血栓样肿块。脑部MRI显示多灶性梗死和脑血管阻塞。她被诊断为APS伴溶血性贫血、脑血管阻塞和心肌梗死。在单独使用GC、IG、利妥昔单抗、羟氯喹以及低分子量肝素钠和华法林治疗数周后，患者病情明显改善。
儿科医生应熟悉儿科APS的各种表现，以便及时发现可能的抗磷脂抗体相关并发症，并尽早启动适当的管理策略。
