Pediatric Infection and Vaccine

The Korean Society of Pediatric Infectious Diseases (대한소아감염학회)
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A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis

골화석증에 동반된 거대세포바이러스 감염의 1례

  • Lee, Sang Hyun (Department of Pediatrics, Korea University College of Medicine) ;
  • Shin, Jeong Hee (Department of Pediatrics, Korea University College of Medicine) ;
  • Choi, Byung Min (Department of Pediatrics, Korea University College of Medicine) ;
  • Kim, Yun-Kyung (Department of Pediatrics, Korea University College of Medicine)
  • 이상현 (고려대학교 의과대학 소아청소년과) ;
  • 신정희 (고려대학교 의과대학 소아청소년과) ;
  • 최병민 (고려대학교 의과대학 소아청소년과) ;
  • 김윤경 (고려대학교 의과대학 소아청소년과)
  • Received : 2015.09.10
  • Accepted : 2015.10.23
  • Published : 2016.04.25
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Abstract

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

골화석증은 골격의 경화증이 특징적으로 나타나는 드문 유전 질환으로 뼈 흡수 기전에 손상이 오며 조기 사망하는 질환이다. 반면 거대세포바이러스 감염은 가장 흔한 선천성 감염 중 하나로 빈혈, 혈소판 감소증과 간비장종대, 뇌 석회화 등이 나타날 수 있다. 심한 간비비대, 혈소판 감소증 및 저칼슘혈증과 발달지연으로 내원한 환자에서 두 가지 질환이 함께 있어 항바이러스제 치료 및 대증치료를 시행하였고, 치료 반응이 빠르게 나타나지는 않았으나 지속적인 치료 결과 대부분의 수치가 정상화 되는 것을 확인하였다. 본 증례는 골화석증 신생아에게 동반된 거대세포바이러스 감염의 첫 증례 보고로, 거대세포바이러스 감염에 대한 항바이러스제의 장기 치료로 호전된 사례이다.

Keywords

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