背景:系统性红斑狼疮(SLE)是一种自身免疫性疾病,具有多种临床表现,涉及多个器官系统。SLE的神经精神表现与发病率和死亡率增加有关。因此,识别和诊断疾病实体并早期治疗是重要的。当涉及神经精神症状时,通常有许多其他系统特征来帮助诊断SLE。已经发现了许多自身抗体并用于帮助诊断SLE。大多数儿童SLE病例中存在的抗体,以及许多其他风湿病,是非特异性抗核抗体(ANA)。ANA是初级保健医生在评估可能患有风湿性疾病的患者时常用的筛查工具。然而,一小部分SLE患者,1-5%,呈现ANA阴性,重要的是要保持SLE在特定情况下的鉴别诊断,代谢和神经检查已经完成,并被证明是不确定的。
方法:本病例涉及一名ANA阴性的西班牙裔青春期女性,她表现为SLE继发于脑白质病的弥漫性脑水肿,伴有中枢神经系统受累。她的表现正常,除了头痛外,症状相对没有。她在住院期间接受了广泛的代谢检查,传染病,风湿病,在获得SLE诊断之前的神经病学。她接受环磷酰胺和利妥昔单抗治疗,疾病反应适当。
结论:文献综述显示12例SLE表现为或发展为弥漫性脑水肿和/或白质脑病。我们患者的病例不同,尽管其他自身抗体阳性,但她也是ANA阴性。虽然她确实有低补体和短暂性白细胞减少症,她没有出现其他器官受累的迹象,这使得有神经精神参与的SLE的诊断相当具有挑战性。我们讨论了保持SLE鉴别诊断的重要性,尽管在复杂病例中ANA阴性,但经过彻底的检查尚未发现,并考虑不仅使用ANA,还使用dsDNA和补品进行初步筛查,以避免漏诊。
BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical manifestations involving multiple organ systems. Neuropsychiatric manifestations of SLE have been associated with increased morbidity and mortality, thus it is important to recognize and diagnose the disease entity and treat early. When neuropsychiatric symptoms are involved, typically there are many other systemic features to aid in the diagnosis of SLE. Many autoantibodies have been discovered and are used to help diagnose SLE. The antibody present in most cases of pediatric SLE, as well as in many other rheumatic diseases, is the nonspecific antinuclear antibody (ANA). The ANA is a commonly used screening tool by primary care physicians when evaluating a patient with a possible rheumatic disorder. However, a small subset of SLE patients, 1-5%, present with a negative ANA, and it is important to keep SLE on the differential diagnosis in specific instances when a thorough infectious, metabolic and neurological workup has been completed and proven to be inconclusive.
METHODS: This case involves a Hispanic adolescent female with a negative ANA who presented with diffuse cerebral edema secondary to leukoencephalopathy due to SLE with central nervous system involvement. She was normotensive on presentation and relatively symptom free aside from headache. She had an extensive workup while inpatient involving metabolic, infectious disease, rheumatology, and neurology prior to obtaining the diagnosis of SLE. She was treated with cyclophosphamide and rituximab with appropriate disease response.
CONCLUSIONS: A review of the literature revealed 12 cases with SLE presenting with or developing diffuse cerebral edema and/or leukoencephalopathy. Our patient\'s case differs in that she was also ANA negative despite other autoantibody positivity. While she did have low complements and transient leukopenia, she did not present with other signs of organ involvement, which made the diagnosis of SLE with neuropsychiatric involvement quite challenging. We discuss the importance of keeping SLE on the differential diagnosis despite a negative ANA in complex cases after thorough workup has been unrevealing, and to consider initial screening with not only the ANA but also dsDNA and complements to avoid missed diagnoses.