P2.M257: The Disease of 1000 Faces: A Case Report of Multisystem Progression of Systemic Lupus Erythematosus

Introduction: Systemic Lupus Erythematosus (SLE) is a complex multisystem autoimmune disorder, with significant variability in its presentation. Children with SLE frequently present with more acute and severe disease features compared to adult cases. There are often more pronounced differences in disease activity, in particular affecting the renal, hematologic, and central nervous systems in pediatric patients.

Case Description: We present the case of a 16-year-old African American female with a history of ADHD, who presented to the emergency department (ED) with a two-week history of tender digital lesions, chest pain, dyspnea, and arthralgias, in addition to an E.coli positive urinary tract infection and positive Strep rapid test. She also endorsed over two weeks of abnormal uterine bleeding (AUB). Family history is significant for breast cancer, cardiovascular disease, diabetes, and systemic lupus erythematosus (SLE). On physical exam, she had numerous tender, dusky, violaceous non-blanching macules, some with focal erosion, on her nasal tip, distal volar fingers, and toes. She endorsed tenderness to palpation of her abdomen, back, and hips. Mitral valve vegetations and pericardial effusions were seen on POCUS. On echocardiogram, however, no vegetations were noted. Initial workup was centered around infective endocarditis, but given these reassuring findings, a rheumatologic workup was performed, which revealed positive ANA, dsDNA, Smith, and RNP antibodies, pointing towards a diagnosis of SLE. Gynecology started medroxyprogesterone which stopped her AUB. Hematuria, initially attributed to AUB, persisted, prompting a renal biopsy, which demonstrated lupus nephritis class 4/5. Dermatology advised that her rash was significant for Lupus Pernio, an uncommon sequelae of SLE. She received pulse methylprednisolone and was started on hydroxychloroquine prior to discharge. A few weeks after discharge, she returned to the ED with new-onset worsening neuropsychiatric symptoms (NPS) including psychosis and active suicidal ideation. MRI brain demonstrated diffuse white matter disease. MRA and EEG were both normal. She exhibited an inability to perform activities of daily living and deteriorating behavior, which was concerning for catatonia. She had noted improvement in symptoms following a lorazepam challenge and initiation of olanzapine. Her NPS were attributed to lupus cerebritis, a serious manifestation of lupus. Treatment with cyclophosphamide infusions was initiated.

Discussion: SLE can present as a diagnostic challenge, with pediatric patients often exhibiting a more acute and severe presentation. Moreover, rheumatologic workup should be considered in pediatric patients with complex presentations such as this. While mortality is often highest in those with renal disease, neuropsychiatric disease often carries a significant burden to morbidity and quality of life. However, the disease course and significant associations with NPS is not well understood, despite being a severe complication of SLE.

Conclusion: This case highlights the swift disease progression and the need for close management of pediatric SLE patients guided by a multidisciplinary approach to care.