Juvenile-onset mixed connective tissue disease associated with macrophage activation syndrome: A case with refractory Raynaud's phenomenon

Introduction: Mixed connective tissue disease (MCTD) is an autoimmune disease that is rare in children. The disease is presented with complex clinical features, so early diagnosis is challenging. Herein we describe the management and outcome of a girl with MCTD associated with macrophage activation syndrome (MAS) and refractory Raynauds' phenomenon. Case report: A 13-year-old girl was admitted to the pediatric rheumatology ward with mild fever, reduced appetite, 6 kg weight loss (body mass index 15.8), digital ulcers, sclerodactyly, scleroderma, dysphagia, gastroesophageal reflux and arthralgia. She also had photosensitivity, Raynaud's phenomenon, painless oral ulcers, and malar rash. She developed arthritis of the knees and ankles with limited range of motion. Spirometry showed a restrictive pattern. There was speckled antinuclear antibodies (ANA; 1/1260) and positive 13-2-glycoprotein, Ul-ribonucleoprotein (Ul-RNP), anti-Scl-70 and anti-Ro52 antibodies. Anti-double stranded deoxyribonucleic acid and anti-cyclic citrullinated protein antibodies were negative. Based on clinical and laboratory findings, MCTD was confirmed. The child was treated with steroid, vasodilators, and immunosuppressives. She had an attack of salmon pink rashes, spiky fevers, Koebner phenomenon, serositis, and organomegaly and the diagnosis of associated MAS was held. The patient was treated with pentoxifylline, prednisolone, methotrexate, low dose aspirin, nifedipine, and hydroxy-chloroquine. On follow up there was refractory digital ulcers and Raynaud's phenomenon; transthoracic endoscopic sympathectomy was performed and digital ulcers and coldness resolved. Conclusion: MCTD may present with a myriad of rheumatic manifestations and in association with MAS the diagnosis and management may be challenging. Refractory Raynauds' phenomenon may remarkably improve on transthoracic sympathectomy. (C) 2019 Publishing services provided by Elsevier B.V. on behalf of Egyptian Society of Rheumatic Diseases.