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http://dx.doi.org/10.14776/piv.2016.23.1.72

A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis  

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)
Publication Information
Pediatric Infection and Vaccine / v.23, no.1, 2016 , pp. 72-76 More about this Journal
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.
Keywords
Osteopetrosis; Cytomegalovirus infection; Infant;
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