A case of cytomegalovirus infection in a neonate with osteopetrosis

Sang Hyun Lee, Jeong Hee Shin, Byung Min Choi, Yun Kyung Kim

    Research output: Contribution to journalArticlepeer-review

    1 Citation (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)72-76
    Number of pages5
    JournalPediatric Infection and Vaccine
    Volume23
    Issue number1
    DOIs
    Publication statusPublished - 2016

    Keywords

    • Cytomegalovirus infection
    • Infant
    • Osteopetrosis

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Infectious Diseases

    Fingerprint

    Dive into the research topics of 'A case of cytomegalovirus infection in a neonate with osteopetrosis'. Together they form a unique fingerprint.

    Cite this