Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis

  • Park, Joon Hyeong (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Seo, Yu Mi (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Han, Seung Beom (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Kim, Ki Hwan (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Rhim, Jung Woo (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Chung, Nack Gyun (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Kim, Myung Shin (Department of Laboratory Medicine, Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Kang, Jin Han (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Jeong, Dae Chul (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
  • Received : 2016.05.03
  • Accepted : 2016.08.18
  • Published : 2016.10.15
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Abstract

Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been diagnosed with hemophagocytic lymphohistiocytosis (HLH) 4 different times, which was well controlled with intravenous immunoglobulin and steroids since the age of 3. We were unable to identify the cause for the HLH. He remained symptom-free until the development of back pain and right ankle joint pain with swelling at 15 years of age. He was diagnosed with HLA B27-positive AS with bilateral active sacroiliitis. He showed symptom aggravation despite taking naproxen and methotrexate, and the symptoms improved with etanercept. On admission, his laboratory data showed leukopenia with high ferritin and triglyceride levels. Bone marrow biopsy examination showed histiocytic hyperplasia with hemophagocytosis. There was no evidence of infection. He received naproxen alone, and his symptoms and laboratory data improved without any other immunomodulatory medications. Genetic study revealed no primary HLH or inflammasome abnormalities. In this case, underlying autoimmune disease should have been considered as the cause of recurrent MAS in the young patient once primary HLH was excluded.

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References

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